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The syndrome of anterior fibroneural stalk, vertebral anomaly, enteric duplication cyst, and diaphragmatic hernia is a manifestation of abnormal notochordal development due to persistence of the neurenteric canal beyond early fetal gestational age. Our description of the third such published case to date supports this novel tetralogy and further illustrates the role of both pre- and postnatal imaging in achieving the diagnosis., (© 2024. Crown.)

A 24-year-old woman presented to neurosurgical consultation for chronic back pain. The patient was long term in wheelchair for vertebral deformity. She was the third child of first-degree consanguineous parents. The 2 older brothers had also vertebral malformations. The radiological images showed butterfly vertebra, vertebral fusion, hemivertebrae, scoliosis, and rib malformation. The patient was in follow-up for restrictive lung disease. Motor evoked potentials and lower limb electromyography were normal. We recommended conservative treatment for the back pain with antalgic and physical therapy. Diagnosis of spondylocostal dysostosis, or Jarcho-Levin syndrome, was made based on radiological features. Radiological mages are pathognomonic. Spondylocostal dysostosis is a rare hereditary disorder associated with multiple vertebral and rib anomalies. The entity is distinct from spondylothoracic dysostosis, which has a higher mortality due to respiratory complications. The patient was not compliant for genetic familiar counseling. At 12-year follow-up, the patient was in periodic respiratory and motor rehabilitation therapy., (Copyright © 2018 Elsevier Inc. All rights reserved.)

Proximal 16p11.2 microdeletions are recurrent microdeletions with an overall prevalence of 0.03%. In patients with segmentation defects of the vertebra (SDV), a burden of this microdeletion was observed with TBX6 as a candidate gene for SDV. In a published cohort of patients with congenital scoliosis (CS), TBX6 haploinsufficiency was compound heterozygous with a common haplotype. Besides, a single three-generation family with spondylocostal dysostosis (SCD) was reported with a heterozygous stop-loss of TBX6. These observations questioned both on the inheritance mode and on the variable expressivity associated with TBX6-associated SDV. Based on a national recruitment of 56 patients with SDV, we describe four patients with variable SDV ranging from CS to SCD associated with biallelic variations of TBX6. Two patients with CS were carrying a proximal 16p11.2 microdeletion associated with the previously reported haplotype. One patient with extensive SDV was carrying a proximal 16p11.2 microdeletion associated with a TBX6 rare missense change. One patient with a clinical diagnosis of SCD was compound heterozygous for two TBX6 rare missense changes. The three rare variants were affecting the chromatin-binding domain. Our data illustrate the variable expressivity of recessive TBX6 ranging from CS to SCD., (© 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Jarcho-Levin syndrome (JLS) is a congenital disorder consisting of various vertebral and costal anomalies. Congenital heart defects, abdominal wall malformations, urogenital and anal abnormalities, multiple skeletal anomalies, upper limb anomalies, spina bifida, and inguinal, umbilical and diaphragmatic hernias can be seen as components of JLS. Spina bifida appears to be a common finding in reported JLS cases. We retrospectively reviewed the medical records, plain X-rays and MRIs of patients with spina bifida between 2010 and 2014 and discussed the results., (© 2015 S. Karger AG, Basel.)

Spondylocostal dysostosis (SCD) is a very rare syndrome characterized by vertebral malformation and rib deformity. Some of the patients with SCD have other birth defects in the central nervous system, the genitourinary tract, diaphragm or heart and so forth. There have been reported SCD with complex congenital heart disease, such as pulmonary atresia, double outlet right ventricle, and d-transposition of great arteries. However, there have been no reported SCD patients with confirmed tetralogy of Fallot (TOF). Here, a patient with SCD having a very rare combination of rib defects on the right side and left-sided scoliosis, tetralogy of Fallot, and diaphragmatic spleen herniation, which had not been reported before, was described., (© 2014 Japanese Teratology Society.)

We report a Mexican mestizo 2 months old male with Fryns syndrome and vertebral defects. The patient's phenotype included typical craniofacial dysmorphism, short neck, agenesis of the corpus callosum, congenital left diaphragmatic hernia, complex heart disease, C1 to C6 vertebral agenesis with increased interpedicular space, thoracic rotoscoliosis, broad medial ends of the clavicles, brachytelephalangy of hands and feet with fingers axially deviated, and nail hypoplasia. Renal and chromosomal evaluations were normal. Since this is the first description of cervical vertebrae agenesis and thoracic rotoscoliosis in Fryns syndrome, we propose that these clinical and radiological features should be incorporated to the Fryns syndrome phenotype and specifically looked for in other children.

Von Meyenburg complexes (VMCs), also known as bile duct hamartomas, are a part of a group of ductal plate malformations. They are typically present intrahepatically. In this case, we present to our knowledge the first report of an extra-hepatic VMC in the pediatric population. The patient presented as a 10-month-old infant with a weeklong history of progressive breathing difficulty. A chest radiograph was obtained, showing intestinal loops in the thoracic cavity consistent with a Morgagni's hernia, unrelated to his breathing difficulty. The patient then underwent an elective repair of his congenital diaphragmatic defect. During the operation, the bile duct hamartoma was found adherent to the accessory lobe of the liver, present to the left of the ligamentum teres.

In humans, congenital spinal defects occur with an incidence of 0.5-1 per 1000 live births. One of the most severe syndromes with such defects is spondylocostal dysostosis (SCD). Over the past decade, the genetic basis of several forms of autosomal recessive SCD cases has been solved with the identification of four causative genes (DLL3, MESP2, LFNG and HES7). Autosomal dominant forms of SCD have also been reported, but to date no genetic etiology has been described for these. Here, we have used exome capture and next-generation sequencing to identify a stoploss mutation in TBX6 that segregates with disease in two generations of one family. We show that this mutation has a deleterious effect on the transcriptional activation activity of the TBX6 protein, likely due to haploinsufficiency. In mouse, Tbx6 is essential for the patterning of the vertebral precursor tissues, somites; thus, mutation of TBX6 is likely to be causative of SCD in this family. This is the first identification of the genetic cause of an autosomal dominant form of SCD, and also demonstrates the potential of exome sequencing to identify genetic causes of dominant diseases even in small families with few affected individuals.

The spondylocostal dysostosis (SCD) is one of the two major clinico-radiological subtypes of the Jarcho-Levin syndrome (JLS). The JLS is a rare heterogeneous entity characterized by facial dysmorphism, short-neck, short-trunk, normal sizes limbs, with multiple vertebral anomalies at all levels of the vertebral column and costal defects. The JLS has been classified into 2 major clinical phenotypes, based on the extent and distribution of skeletal anomalies, the pattern of inheritance and the prognosis. We report the case of a non-consanguineous 35-year-old female patient, with a history of multiple large leiomyomas gravida 1, para 1. A three-dimensional ultrasound at 18 weeks of gestation revealed: thoracic and lumbar hemivertebrae with abnormal alignment of the vertebral bodies and kypho-scoliosis, also the absence of two right ribs and abnormal shaped ribs. The biometric measurement was appropriate for gestational age and no other malformations were found. Although there was no previous history, based on the three-dimensional ultrasound findings a mild subtype of JLS was suspected. At term, the patient gave birth, by Cesarean section, to a male fetus, with a weight of 2700g, a length of 50cm and a calculated Apgar score of 9. The postpartum examination of the fetus confirmed the diagnose of SCD. The evolution of the newborn was good - he had no respiratory difficulty; he will benefit from an experimental surgery involving expandable titanium ribs. Our case illustrates the importance of an accurate ultrasound examination, which can be hindered by multiple large leyomiomas, in order to diagnose and to differentiate the two subtypes of JLS. The SCD can have a favorable evolution with the appropriate perinatal and postpartum care.

The combination of congenital diaphragmatic hernia (CDH) and omphalocele is quite rare but can be seen in several syndromes. We report on a female newborn with this combination that had not been diagnosed prenatally. The patient suffered respiratory failure that persisted despite intensive care support, suggesting severe secondary pulmonary hypoplasia. Autopsy revealed the combination of an anterolateral CDH and omphalocele in the absence of other anomalies. We believe this to be the first such case to be reported in the literature., (Copyright © 2013 Wiley Periodicals, Inc.)

Although prenatal diagnosis of congenital diaphragmatic hernia is not a rare event, detection of intrathoracic kidney in association is extremely rare. We present the sonographic findings in such a case. The postnatal outcome after successful respiratory management and surgical repair was good., (Copyright © 2011 Wiley Periodicals, Inc.)

Congenital diaphragmatic hernia (CDH) is a severe neonatal anomaly. The aim of this study was to evaluate the frequency and types of malformations associated with CDH. The outcome was compared with that in newborns with CDH alone. The study included 362 fetuses and newborns at a single national center for CDH. Associated malformations and chromosomal aberrations were noted prenatally and postnatally. The neonatal outcome was assessed relative to the use of extracorporeal membrane oxygenation (ECMO) and the mortality rate. At least one associated malformation was diagnosed in 143 cases (39.5%). Altogether, 272 associated malformations were found. Only 50 (18.4%) anomalies were diagnosed antenatally. In 62 (17.1%) cases, 102 major malformations were found along with CDH, with a prenatal detection rate of 35.3%. The associated malformations were very heterogeneous, but cardiovascular malformations were the most common. Newborns with major anomalies, chromosomal aberrations, or syndromes additional to CDH had a significantly lower survival rate than newborns with an isolated CDH. Associated malformations did not affect the rate of ECMO treatment. Associated malformations in CDH are frequent and heterogeneous, and diligent and experienced antenatal and postnatal care is important., (©Thieme Medical Publishers.)

A 68-year-old male patient with acute coronary syndrome was referred to our center. He also received a diagnosis of diaphragmatic hernia after a clinical examination. The patient underwent a simultaneous aorta coronary bypass operation and repair of the congenital diaphragm hernia. During the operation, the patient was observed to have an atrial septal defect. Our handling of the case is discussed in light of the literature.

Hepatic pulmonary fusion is extremely rare with only 9 previous cases reported in the literature. In typical cases, the clinician should be alerted to the possibility of hepatic pulmonary fusion if the chest radiograph shows a large opacity on the right side without a contralateral mediastinal shift. The authors present a case of right-sided diaphragmatic hernia and hepatic pulmonary fusion with associated contralateral mediastinal shift discovered beyond the neonatal period. The 9 previous cases were retrospectively reviewed with special attention to mediastinal shift on preoperative chest radiograph, operative procedure, and mortality. Only one previous case demonstrated a contralateral mediastinal shift. The most common procedure performed was partial separation of the hepatic pulmonary fusion and approximation of the diaphragmatic defect. Four of the previous 9 patients died. In our case, reduction of bowel and approximation of the diaphragmatic defect around the fused liver and lung have been successful., (Copyright 2010 Elsevier Inc. All rights reserved.)

Neonates with congenital diaphragmatic hernia (CDH) often have other major malformations. Anatomic airway anomalies associated with CDH include congenital stenosis, pulmonary hypoplasia, and abnormal bronchial branching. We describe an infant with CDH who, after developing recurrent upper-lobe atelectasis, was found to have a right tracheal bronchus. This clinically significant anomaly can have important and potentially preventable adverse consequences., (Thieme Medical Publishers.)

Pentalogy of Cantrell is the association of five features: a midline anterior ventral wall defect, a diaphragmatic defect, a cleft distal sternum, a defect of the apical pericardium with communication into the peritoneum, and an intracardiac defect. This is a complex abnormality that requires multiple surgical procedures, but which can be successfully treated postnatally with staged surgery. Three recent cases demonstrated features in prenatal life that were unexpected to us, and which we felt were worthy of description. The diagnosis of the pentalogy of Cantrell was made at 11, 16 and 14 weeks. Two of the three had an increased nuchal translucency measurement. All three fetuses had a major abdominal wall defect with a significant degree of protrusion of the cardiac ventricles outside the chest at the initial scan. At 20 and 26 weeks, the heart was seen to be within the chest with no protrusion, even of the apex. An intracardiac malformation was found prenatally in two of three cases. There were no karyotype anomalies and all three cases survived despite multiple operations. At the time of writing they were aged 2, 5 and 8 years. The ultrasound findings in all three cases showed an evolving pattern during gestation, with a greater degree of protrusion of the heart through the lower sternal defect into the exomphalos in the early scans than was present later. The possibility of an improvement in the findings has some bearing on counseling in early pregnancy in this complex condition., ((c) 2008 ISUOG. Published by John Wiley & Sons, Ltd.)

We present a case of bilateral intrathoracic kidneys and adrenal glands associated with bilateral posterior diaphragmatic defects in a symptomatic 18-month-old baby boy. The diaphragmatic defect did not appear to be the typical posterolateral diaphragmatic hernia of Bochdalek. The patient underwent primary surgical correction through an abdominal approach. Postoperatively, the patient enjoyed an uneventful course and was discharged home without any further events. We discuss this report of bilateral intrathoracic kidneys associated with bilateral diaphragmatic hernias, we describe the operative management, and we analyze the possible embryological development of this defect.

Objectives: The aim of the study was to analyze US/ECHO examinations in fetuses with diaphragmatic hernia (DH) diagnosed and treated in our institution from 1994-2006, and their follow-up., Material and Methods: Retrospective analysis of the data base from Department for Diagnoses & Prevention of Fetal Malformations, Research Institute of the Polish Mother's Memorial Hospital: 14,481 fetal echo/ultrasound examinations in 10,077 fetuses have been analyzed to retrieve 115 fetuses with DH., Results: The mean gestational age at the targeted US/ECHO examination was 30 wks. There were 8 terminations of pregnancies (at mean 21 wks), 6 intrauterine demises, 60 neonatal deaths after delivery (in 1-3rd day of postnatal life), 8 deaths after surgery, 19 neonates were discharged home and in 14 cases the follow-up could not be monitored. The most common anomalies accompanying DH have been central nervous system anomalies (20%), polyhydramnion (16%) and cong heart defects (10%). In this subgroup, there was 100% mortality. Isolated DH has been diagnosed in every third case. In this subgroup, 27 neonates had undergone surgery and the survival rate was 70%, however since 2004 there was not a single death on record., Conclusions: Late gestational age of US/ECHO examinations in our tertiary center suggests that DH has been relatively difficult to detect during ultrasound screening. DH and the other structural malformations have been a lethal disease in our series in 100%. Isolated DH was much less frequent and was present in every third case (29%), and in this group the survival rate was 70%, regardless of the way of the delivery (CS or Vaginal).

Morgagni hernia (MH) is a congenital herniation of the abdominal organs through the subcostosternal portion of the diaphragm. It is a rare type of diaphragmatic hernia that has been associated with other congenital anomalies. The purpose of this clinical review was to determine the incidence of associated anomalies in patients with MH at a major pediatric referral center. The medical records of all patients with the diagnosis of MH were reviewed retrospectively between 1983 and 2006. The age, sex, side of herniation, presenting symptoms and signs, associated anomalies, radiologic features, intraoperative findings, postoperative course, complications, and mortality were recorded. There were 11 males and 5 females. The average age of the patients was 34.5 months (range 2 months-14 years). Twelve patients (75%) had at least one associated congenital malformation and eight (66.6%) of them had multiple anomalies. Six (37.5%) patients had a chromosomal anomaly, Down's syndrome in five and Turner syndrome in one. MH has a high incidence of associated congenital malformations.

Seckel syndrome is an autosomal recessive disease presenting with microcephalic dwarfism, mental retardation and facial and skeletal abnormalities. Morgagni hernia is quite rare, constituting 1-6% of all diaphragmatic hernias. It is asymptomatic, especially in childhood. Morgagni hernia has never been reported in patients with Seckel Syndrome. Here we report a 3-year-old boy diagnosed as having Seckel Syndrome with Morgagni hernia, which has to be considered during physical examination of patients.

We report two cases of pentalogy of Cantrell diagnosed in utero using a combination of fetal echocardiography and magnetic resonance imaging. The cardiac component consisted of tetralogy of Fallot in the first fetus and ventricular septal defect in the second fetus. Whereas fetal echocardiography allowed accurate delineation of the cardiac anatomy, prenatal magnetic resonance imaging allowed clearer delineation of the extent of the thoracic and abdominal wall defects. Fetal magnetic resonance imaging in conjunction with prenatal echocardiography allows optimal assessment of the fetus with ectopia cordis, which has significant implications from the standpoint of preoperative planning and providing prognostic information. This report represents the first description of applying magnetic resonance imaging in combination with echocardiography toward a better understanding of this clinical entity in the fetus.

Objective: Increased mortality is seen in patients with congenital diaphragmatic hernia who have associated anomalies, such as cardiac defects. We reviewed our series of patients with congenital diaphragmatic hernia and spinal anomalies to evaluate if their prognosis was altered., Methods: We examined our institutional database from August 1995 to August 2005, examining 679 cases of congenital diaphragmatic hernia, identifying all fetuses and newborns with congenital diaphragmatic hernia and spinal anomalies. Patients who had both congenital diaphragmatic hernia and spinal anomalies were identified by prenatal ultrasound reports, postnatal radiographs, operative notes, and pathology reports., Results: Seven patients were identified in the fetal or neonatal period with concomitant diagnoses of congenital diaphragmatic hernia and spinal anomalies. All patients had normal karyotype analysis. Six of these patients had both defects diagnosed using prenatal ultrasonography. All patients died before hospital discharge., Conclusion: Although the numbers are limited in our series, patients with congenital diaphragmatic hernia and spinal anomalies have a dismal prognosis. This finding has significant implications for prenatal counseling., Level of Evidence: III.

Purpose: To evaluate the perinatal results for neonates with congenital diaphragmatic hernia diagnosed prenatally., Method: We reviewed data from 38 cases of congenital diaphragmatic hernia diagnosed prenatally from January 1995 to December 2003 in the Fetal Medicine Unit of the Department of Obstetrics and Gynecology, São Paulo University Medical School. The main data analyzed were gestational age at diagnosis, fetal karyotyping, side of diaphragmatic defect, presence of associated structural malformations, hepatic herniation, and severe mediastinal shift. Perinatal outcomes were obtained by reviewing hospital documents or by directly calling the patients' immediate relatives., Results: Mean gestational age at diagnosis was 29 weeks (range, 16-37 weeks). Thirty (79%) cases had a left diaphragmatic defect and 8 (21%) had a right lesion. Associated structural malformations were observed in 21 (55%) cases, in which 12 fetuses had a normal karyotype and 9 had chromosomal abnormalities. Isolated congenital diaphragmatic hernia was confirmed in 17 (45%) cases. The overall perinatal mortality rate was 92%. Rates of fetal deaths, early neonatal deaths, late neonatal deaths, and survival were 42%, 50%, 0%, and 8%, respectively, in cases with associated structural malformations but normal karyotyping; 56%, 44%, 0%, and 0% for cases with chromosomal abnormalities; and, 0%, 76%, 12%, and 12% in cases with isolated congenital diaphragmatic hernia. The neonatal mortality rate was 89% in cases with isolated congenital diaphragmatic hernia., Conclusion: Perinatal mortality was very high in prenatally diagnosed cases of congenital diaphragmatic hernia. Earlier perinatal deaths are associated with the presence of other structural defects or chromosomal abnormalities. In cases of isolated congenital diaphragmatic hernia, mortality is related to the presence of herniated liver, right-sided lesion, and major mediastinal shift.

Congenital diaphragmatic hernia occurs in approximately 1 of 2200 live births and is associated with a high degree of morbidity and mortality. Poor outcome in these cases is primarily related to the presence of additional anomalies or abnormal karyotype and the development of pulmonary and cardiovascular complications. Prenatal diagnosis occurs in approximately 50% of cases. Multiple ultrasound markers have been identified as being predictive of outcome. Three-dimensional ultrasound, fetal echocardiography, and magnetic resonance imaging have been identified as additional imaging modalities that can assist in making the antenatal diagnosis and accurately assessing perinatal outcome.

A rare case of congenital microgastria in association with distal esophageal stenosis and left-sided congenital diaphragmatic hernia is reported. Other features included megaesophagus and asplenia. The probable causative factors are discussed.

This retrospective study reviews the medical records of 77 fetuses and babies with congenital diaphragmatic hernia (CDH) referred to two hospitals in Detroit from 1986 through 2000. The aims were to examine the effects on outcome of multiple variables, especially the type of CDH, associated anomalies, and ultrasound prognostic parameters. Ultrasound measurements of head (HC), chest (CC), and abdominal circumferences (AC) were obtained from videotapes. ANOVA and chi-square analysis were used to determine statistical significance between groups and proportions. Eighty-nine percent (65/73) of pregnancies resulted in live births, and 54% (35/65) of patients survived past 30 days. Liveborn patients with low APGAR scores were less likely to survive. Forty-three percent (30/70) had major associated anomalies, with cardiac anomalies constituting about 52% (33/64) of the major associated anomalies. Seventy percent of patients with isolated CDH survived versus 36% of patients with both CDH and cardiac anomalies. Sixty-seven percent (8/12) of fetuses antenatally diagnosed before 25 weeks of gestation survived past 30 days of birth. The survival rate of right-sided CDH with liver herniation was 80% (8/10), compared with 29% (4/14) for left-sided CDH with liver herniation (p=0.088). There was a significant linear relationship (r=0.603, p =0.029) between CC/AC and CC/HC among patients with CDH; survivors had higher CC/AC and CC/HC values than nonsurvivors. These results support the utility of CC/AC and CC/HC measurements and the presence of liver herniation as important prognostic factors that can be used in antenatal counseling and in planning clinical trials.

Gershoni-Baruch syndrome is a multiple congenital malformation complex characterized by omphalocele, diaphragmatic hernia, cardiovascular abnormalities, and radial ray defects. Autosomal recessive inheritance is suggested. We describe two additional cases from a single family (sister and brother) delivered through termination at 23 and 9 weeks of gestation, respectively. The first fetus showed a spectrum of schisis defects without any limb involvement while the second bore mainly malformations of hands and feet. The occurrence of two different syndromes in the same family is highly improbable, but, considering both malformation complexes as possible manifestations of the same disease, a diagnosis of Gershoni-Baruch syndrome appears the most reasonable. These new familial cases bring further support to the hypothesis of an autosomal recessive inheritance of this syndrome., (Copyright 2003 Wiley-Liss, Inc.)

The early ultrasound prenatal diagnosis of congenital diaphragmatic hernia is uncommon and suggests a poor outcome. We report 2 cases diagnosed at 10 and 12 weeks' gestation, with increased fetal nuchal translucency thickness (4 and 11 mm) and associated abnormalities (complex heart defect in one and many malformations in the other, including duodenal atresia and asplenia). In 1 case, the baby was delivered vaginally at 36 weeks, but neonatal death occurred; the pregnancy was terminated at 15 weeks in the second case., (Copyright 2003 S. Karger AG, Basel)

Purpose of the Study: Diaphragmatic agenesis is the most extreme anatomic form of congenital diaphragmatic defects. Clinically this pathology is not different from posterolateral diaphragmatic hernia described by Bochdalek. We describe our observations of scoliosis in 16 neonates with diaphragmatic agenesis., Material and Methods: Between 1987 and 1996, 69 neonates underwent surgery for a congenital diaphragmatic hernia (CDH) at our institution. Sixteen of these patients had the most extreme form of CDH. Ten of these 16 patients survived. Spinal and/or chest wall deformities were observed in nine patients, including isolated scoliosis in two patients, scoliosis associated with a chest wall deformity in three, and isolated chest wall deformity (pectus excavatum or pectus carnium) in four. These deformities developed between 13 months and three and a half years of age (mean: two years)., Results: For two patients the deformity was mild (Cobb angle<15 degrees ) and required only observation. A Milwaukee brace was used in three patients that had severe kyphoscoliosis. Isolated chest wall deformities were treated with observation. No patient required operative treatment for these skeletal deformities., Discussion: The preliminary results of this study indicate that chest wall deformities and scoliosis frequently occur during surgery for diaphragmatic agenesis. Nonoperative treatment is usually sufficient, however, follow-up of these patients until adulthood is recommended.

Objective: We sought to assess outcome in patients with CDH and HD to determine if LHR is also predictive of outcome in this subset of patients., Study Design: We carried out a retrospective review (April 1996-October 2000) of patients with isolated CDH (n = 143, 82.2%) and patients with HD (n = 31, 17.8%) to determine the incidence of additional anomalies, survival to term, CDH repair, cardiac repair, and survival to discharge. Survival based on LHR was analyzed in a subset of fetuses., Results: The risk of death from birth to last follow-up was 2.9 times higher for patients with CDH plus HD than for patients with CDH alone (P <.0001). Of 11 patients with CDH plus HD who had CDH repair (5 of whom also had HD repair), 5 survived. All 10 patients with an LHR <1.2 died; 3 of 6 with an LHR >1.2 survived (Fisher exact test, P =.04)., Conclusion: Heart disease remains a significant risk factor for death in infants with CDH. The LHR helps predict survival in this high-risk group of patients.

The first prenatal diagnosis of Pallister-Killian syndrome (PKS) was reported by Gilgenkrantz et al. in1985. Since this report, about 60 prenatal cases have been reported but both sonographic and cytogenetic diagnoses remain difficult. Although ultrasound anomalies such as congenital diaphragmatic hernia, polyhydramnios and rhizomelic micromelia in association with fetal overgrowth are very suggestive of the syndrome, they are inconstant and they may even be absent. The mosaic distribution of the supernumerary isochromosome 12p greatly increases these difficulties. No prenatal cytogenetic technique is sensitive enough to ensure prenatal diagnosis and false-negative results have been described on fetal blood, chorionic villi and amniocentesis. We report here two prenatal cases of PKS which illustrate the great variability of the fetal phenotype. In reviewing the 63 reported cases, we attempt to determine ultrasound indicators of the syndrome and to define a cytogenetic strategy. In cases where ultrasound indicators are present, our proposal is first to perform chorionic villus or placental sampling and then amniocentesis when the first cytogenetic result is normal. Fetal blood sampling is the least indicated method because of the low frequency of the isochromosome in lymphocytes. In this cytogenetic strategy, fluorescent in situ hybridization (FISH) and especially interphase FISH on non-cultured cells increases the probability or identifying the isochromosome. A misdiagnosis remains possible when ultrasound is not contributory; the identification of new discriminating ultrasound indicators would be very helpful in this context., (Copyright 2002 John Wiley & Sons, Ltd.)

Morgagni's hernia is an uncommon type of diaphragmatic hernia in the pediatric age group. Out of 52 children with different types of congenital diaphragmatic hernia that we have treated, 5 (9.6%) had Morgagni's hernia. There were 2 infants and 3 children including one with Down's syndrome. All suffered from repeated attacks of chest infection, and only after a chest X-ray was the diagnosis of Morgagni's hernia suspected. In 2 cases this appeared as an opacity in the anterior mediastinum adjacent to the pericardium; diagnosis was confirmed by barium enema in one and a CT-scan in the other. The remaining 3 cases showed anterior herniation of bowel loops on chest X-ray which was bilateral in one. This bilaterality was confirmed pre-operatively by CT scan. Associated anomalies were present in all cases, including 2 with malrotation. All patients were treated surgically via a transabdominal approach. Our study shows a relative high frequency of Morgagni's hernia in our patients and, although late-presenting Morgagni hernias are relatively benign, it can cause significant morbidity. This calls for early diagnosis and early referral for surgery. Chest X-ray is to be strongly advocated in children with repeated attacks of chest infection.

Esophageal duplication cyst, Bochdalek's hernia and polysplenia are uncommon congenital anomalies which have not been reported to be associated with each other. We present the radiological aspects of an unusual coexistence of these three congenital anomalies in a 4-month-old girl.

Simpson-Golabi-Behmel syndrome (SGBS) is one of the overgrowth syndromes. Microdeletions of the glypican-3 (GPC3) gene were described by Pilia et al. (1996). Glypican-3 encodes a putative extracellular proteoglycan which is expressed in embryonic mesodermal tissues and plays an important role in embryonal growth. We report a Japanese patient with SGBS who had a single base deletion in the exon 7 of the GPC3 gene. This is the first report of a single base deletion of the GPC3 gene.

Three cases of congenital diaphragmatic hernia (CHD) are presented with special emphasis on a neonate with an unusual combination of abnormalities. It was noted that in all three the hernias were of the Bochdaleck's type. CDH may not always be a single isolated failure of closure of the pleural peritoneal hiatus but a more complex multi organ anomaly.

Advances in ultrasound technology and sonographer's experience lead to the description of many rare syndromes and malformations through prenatal diagnosis. Diaphragmatic hernia is a rather common malformation but can be an indicator of different syndromes. We report the prenatal diagnosis of lethal multiple pterygium syndrome type II which has been established in the 34th week of pregnancy. The sonographically detectable symptoms consisted of polyhydramnios, hygroma colli, diaphragmatic hernia, scoliosis, short forearms, hypokinesia of the fetus and pterygia over the large joints. Labour was induced in the 34th week of pregnancy; the neonate died shortly after vaginal delivery as a result of the pulmonary hypoplasia. A multidisciplinary approach in prenatal assessment may help to clarify difficult diagnostic problems and may be of direct benefit for the pregnant patient.

Background: The pentalogy of Cantrell consists of defects involving the diaphragm, abdominal wall, pericardium heart, and lower sternum., Cases: We report three cases of the pentalogy of Cantrell (variant form), involving an omphalocele complicated by an anterior diaphragmatic hernia. In two cases, a pericardial effusion was noted at antenatal scanning; the case without a pericardial effusion had an intact diaphragmatic pericardium at surgical repair., Conclusion: The presence of a pericardial effusion in association with an omphalocele should prompt a detailed search for other features of the pentalogy of Cantrell or its variants.

We found out of 1500 prenatal cardiac ultrasound examinations very small left heart in 14 cases. Six of the 14 cases were hypoplastic left heart syndrome and eight functional-secondary left heart hypoplasia. The most important signs the echocardiography in cases of hypoplastic left heart are as follow: hypoplasia of mitral valve with or without measurable flow, absence of the anterograde flow through the aortic valve, retrograde flow in the isthmus. In cases of functional left heart hypoplasia the size of the left ventricle, aorta and mitral valves were under the 3rd percentile but there were measurable anterograde flow through the aorta. In eleven cases there were other malformations: hygroma colli, diaphragmatic hernia and omphalokele. The differentiation of the hypoplastic left heart from the secondary left heart hypoplasia has a great importance because of the therapic planning and prognosis.