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We report four individuals from two unrelated consanguineous families with 3MC syndrome. In the first family, chromosome microarray data revealed that the two affected sisters, born to first-cousin parents, shared a unique homozygous C-terminal deletion in the COLEC11 gene. Two affected brothers from a second family, also born to first-cousin parents, shared a region of homozygosity that included the second gene known to cause the 3MC syndrome, MASP1. We discuss the diagnostic approach of craniofacial disorders born to consanguineous parents and highlight a literature search and reference a helpful dysmorphology solution powered by FDNA (Facial Dysmorphology Novel Analysis) technology.

The mannose-binding lectin associated-protease-3 (MASP-3) is a member of the lectin pathway of the complement system, a key component of human innate and active immunity. Mutations in MASP-3 have recently been found to be associated with Carnevale, Mingarelli, Malpuech, and Michels (3MC) syndrome, a severe developmental disorder manifested by cleft palate, intellectual disability, and skeletal abnormalities. However, the molecular basis for MASP-3 function remains to be understood. Here we characterize the substrate specificity of MASP-3 by screening against a combinatorial peptide substrate library. Through this approach, we successfully identified a peptide substrate that was 20-fold more efficiently cleaved than any other identified to date. Furthermore, we demonstrated that mutant forms of the enzyme associated with 3MC syndrome were completely inactive against this substrate. To address the structural basis for this defect, we determined the 2.6-Å structure of the zymogen form of the G666E mutant of MASP-3. These data reveal that the mutation disrupts the active site and perturbs the position of the catalytic serine residue. Together, these insights into the function of MASP-3 reveal how a mutation in this enzyme causes it to be inactive and thus contribute to the 3MC syndrome.

The lectin pathway of complement is an important component of innate immunity. Its activation has been thought to occur via recognition of pathogens by mannan-binding lectin (MBL) or ficolins in complex with MBL-associated serine protease (MASP)-2, followed by MASP-2 autoactivation and cleavage of C4 and C2 generating the C3 convertase. MASP-1 and MASP-3 are related proteases found in similar complexes. MASP-1 has been shown to aid MASP-2 convertase generation by auxiliary C2 cleavage. In mice, MASP-1 and MASP-3 have been reported to be central also to alternative pathway function through activation of profactor D and factor B. In this study, we present functional studies based on a patient harboring a nonsense mutation in the common part of the MASP1 gene and hence deficient in both MASP-1 and MASP-3. Surprisingly, we find that the alternative pathway in this patient functions normally, and is unaffected by reconstitution with MASP-1 and MASP-3. Conversely, we find that the patient has a nonfunctional lectin pathway, which can be restored by MASP-1, implying that this component is crucial for complement activation. We show that, although MASP-2 is able to autoactivate under artificial conditions, MASP-1 dramatically increases lectin pathway activity at physiological conditions through direct activation of MASP-2. We further demonstrate that MASP-1 and MASP-2 can associate in the same MBL complex, and that such cocomplexes are found in serum, providing a scenario for transactivation of MASP-2. Hence, in functional terms, it appears that MASP-1 and MASP-2 act in a manner analogous to that of C1r and C1s of the classical pathway.

Cantrell's Pentalogy is a rare condition that consists of defects involving the abdominal wall, lower sternum, anterior diaphragm, pericardium, and heart. In the literature to date, pregnant women with Cantrell's Pentalogy have not been discussed. We performed successful vaginal delivery of a 23-yr-old nulliparous, primigravid woman who had been diagnosed with this condition. Diagnosis was based on cardiac catheterization, angiography, and echocardiogram, and abdominopelvic CT. Vaginal delivery may be an option for women with Cantrell's Pentalogy and may be attempted with caution.

Central and lateral abdominal wall defects are probably distinct and likely arise from different pathogenetic mechanisms. An autopsy study was done using data from a total of 45 central and lateral abdominal wall defect cases to evaluate if they are indeed separate entities and to suggest possible mechanisms involved in their formation. Central defects were found to be statistically different from lateral defects; malformations that co-existed with central defects were mainly bilateral and internal and also involved "inferior" organs in relation to fetal-embryonal blood flow. Patients with lateral defects were more often female, and their coexistent defects were usually unilateral and external, with only 1 defect occurring in an "inferior" organ. These results indicate mechanisms of a vascular perfusion deficit for the majority of the central defects and of external disruption for the lateral defects.

We present the ultrasonographic diagnosis at the 19th gestational week in a case of Prune-belly syndrome which consists in abdominal wall distension with deficiency of the abdominal wall musculature, urinary tract abnormalities (specially mega bladder), and in males, cryptorchidism. The pathologic examination found the patient devoid of striated muscles anterior abdominal wall, hypertrophy of the urinary bladder, and urethral atresia. The Prune-belly is accessible to antenatal diagnosis and the variable prognosis does not always justify abortion.

The Pentalogy of Cantrell (PC) is a rare association of defects involving the lower sternum, abdominal wall, diaphragm, pericardium and heart. We report two rare cases of the PC (variant form), showing fatal progression. Case 1 only survived two hours because of severe cardio-respiratory failure. Physical examination showed midline abdominal and thoracic defects, ectopic heart, pericardial defect, diaphragmatic defect, bilateral undescended testis, scoliosis, and adherence between left upper limb and trunk. In addition, the autopsy revealed diaphragmatic agenesia, intraabdominal testis, bilateral lung hypoplasia and lymphocytic meningitis. Case 2 only survived 15 minutes. In addition to the physical findings, including lower sternal defect, ectopic heart, epigastric omphalocele and scoliosis, the autopsy showed left diaphragmatic agenesia, pericardial agenesia, bilateral lung hypoplasia, deformed rib cage, anterior thoracic myeloschisis, adreno-hepatic fusion, left renal agenesia, meckel diverticulum and multiple accessory spleens. When comparing with other cases of PC, the concurrence of bilateral intraabdominal testis and lymphocytic meningitis in case 1, and adreno-hepatic fusion, anterior myeloschisis, meckel diverticulum, multiple accessory spleens, and renal agenesia in case 2 have not been described previously.

A case of Limb body wall complex is reported in a preterm, Low birth weight and stillborn neonate. The proposita had abdominal wall defect with evisceration of the organs into an amnio-peritonial sac, a short body stalk, torsion of spine with scoliosis and limb defects. Unusual associations present in this case were absent thymus, interstitial calcification in kidney and a history of exposure to birth control pills during first two months post-conception.

We report on two cases of monozygotic twins discordant for body stalk anomaly, diagnosed prenatally in a multicenter ultrasound screening study at 10-14 weeks of gestation. Ultrasound showed a large abdominal wall defect with most of the abdominal contents and almost half of the body in the celomic cavity, in association with severe kyphoscoliosis and a very short umbilical cord. Both pregnancies were managed expectantly and delivered by Cesarean section. The abnormal babies died soon after birth and autopsy confirmed the sonographic diagnosis. Body stalk anomaly in twins is extremely rare. These are, to our knowledge, the first cases reported on monozygotic twins discordant for this anomaly, indicating that the incomplete twinning theory cannot uniformly explain the pathogenesis of the body stalk in twins.

The aim of this study was to describe the prevalence at birth of two abdominal wall defects (AWD), omphalocela and gastroschisis and to identify possible etiologic factors. The AWD came from 265,858 consecutive births of known ouome registered in the registry of congenital malformations of Strasbourg for the period 1979 to 1998. Request information on the child, the pregnancy, the parents and the family was obtained for cases and for controls. Hundred five cases with AWD were analysed, 55.2 % were omphalocele and 44.8 % were gastroschisis. The mean prevalence rate for omphalocele was 2.18 per 10,000 and for gastroschisis 1.76 per 10,000. Associated malformations were found in 74.1 % of omphalocele compared with 53.2 % of gastroschisis; 29.3 % of fetuses with omphalocele had an abnormal karyotype, 44,8 % had a recognizable syndrome, association or an unspecified malformation pattern; 51.0 % of fetuses with gastroschisis had additional malformations that were not of chromosomal origin, but 1 case. Antenatal ultrasound examination was able to detect 39 (67.2 %) cases of omphaloceles and 27 (57.4 %) cases of gastroschisis. In 30 (51.7 %) cases of omphalocele and in 7 (14.9 %) cases of gastroschisis parents opted for termination of pregnancy. The overall survival rate was 14 (24.1 %) for omphalocele and 30 (63.8 %) for gastroschisis. Weight, length and head circumference at birth of infants with AWD were less than those of controls. The weight of placenta of infants with AWD was not different from the weight of placenta of controls. Gastroschisis was associated with significantly younger maternal age than omphalocele. Pregnancies with AWD were more often complicated by threatened abortion, oligohydramnios and polyhydramnios. Mothers of children with AWD took more often medication during pregnancy than mothers of controls.

Our presentation of four cases demonstrates the essential features of limb-body wall complex (LBWC), representing a compound anomaly pattern in body-wall defects. The diagnosis of this entity is based on two of the three following characteristics: (1) exencephaly/encephalocele and facial clefts; (2) thoraco- and/or abdominoschisis; and (3) limb defects. A definite association with internal anomalies and severe kyphoscoliosis makes a more distinct concept of the pathogenesis reasonable. Limb-body wall malformations result from a malfunction of the ectodermal placodes involving the early embryonic folding process. The poor prognosis of LBWC calls for early antenatal diagnosis.

We describe a rare case of a woman aged 38 who presented with an untreated omphalocele in association with a duplication of the vena cava and malposition of the right kidney. An aesthetic and functional reconstruction of the abdomen was achieved with local flaps and the creation of a neoumbilicus.

We report on a fetus with placental trisomy 16, maternal uniparental disomy (UPD), and body stalk anomaly. Body stalk anomaly is a rare, fatal developmental abnormality consisting of a defective abdominal wall with abdominal organs in a sac outside the abdominal cavity covered by amnion adherent to the placenta with absence or severe shortness of the umbilical cord. Trisomy 16 was identified in the placenta in all cells. Amniocentesis was karyotypically normal. Parental origin studies showed maternal UPD for chromosome 16 in post-termination fetal tissue. The cause of the body stalk anomaly is not clearly defined. There are no other reports of placental karyotype or UPD investigations with body stalk anomaly. To our knowledge, this is the first report of placental trisomy 16, UPD in fetus, and body stalk anomaly, suggesting placental insufficiency or imprinting effects as cause of this anomaly. Am. J. Med. Genet. 94:284-286, 2000., (Copyright 2000 Wiley-Liss, Inc.)

Cantrell syndrome is characterized by defects that involve the diaphragm, abdominal wall, pericardium, heart, and lower region of the sternum. It is a rare entity, usually diagnosed at birth and accompanied by high mortality due to the complexity and gravity of the anomalies. In this report, we present a 32-year-old male patient, who was diagnosed in infancy but who reached adult age asymptomatic.

We describe a case of concordant body stalk anomaly in a monozygotic twin. Autopsy of the fetus showed abnormalities compatible with the maldevelopment of embryonic folding. Abdominal viscera were in a sac covered by the amnion and were attached directly to the placenta. The anus was not visible and no discernible external genitalia were noted. Other findings included a neural tube defect and a rectal duplication as an enteric cyst. Umbilical cord had only one vein and an artery. No abnormalities were found on pathologic examination of the placenta. Although we encountered cases previously with gastroschsis and omphalocele, this was the first case of body stalk anomaly that we recognized as an enteric cyst, which is extremely rare in twins.

The presence of body wall defects with "evisceration" of thoracic and/or abdominal organs associated with other congenital anomalies, with or without limb deficiencies, is considered to be the body wall complex (BWC). The BWC is different from gastroschisis, which is usually a small body wall defect lateral to the umbilical cord that is not covered by any membrane and, in most of the cases, is an isolated defect. For the present analysis we separated the BWC group into three subgroups. One group was that of body stalk anomalies characterized by severe defects of the abdominal wall with absence of, or very small, umbilical cord, or this is continuing with the placenta. The second group was made up of those infants with body wall defects without amniotic bands, and the third group was of those children with body wall defects produced by amniotic bands. We considered two additional groups in the analysis, one was of infants with gastroschisis and the other those infants with amniotic bands without body wall affectation. We also included the control group (nonmalformed infants) for comparisons. From the results of our epidemiological study, we can conclude that amniotic bands with body wall affectation and amniotic bands without body wall defects are two different entities. The results also suggest that the characteristics of infants with amniotic bands with body wall defects are more similar to the group of infants with body stalk anomalies. This may indicate that the former group is produced during the very early gestation., (Copyright 2000 Wiley-Liss, Inc.)

Limb-body wall complex (LBWC) is a rare, sporadic, congenital defect defined as a combination of at least two of three characteristics: 1. limb defects, 2. anterior body wall defects, and 3. exencephaly or encephalocoele with/without facial clefts. Three pathogenic mechanisms have been proposed: early amnion rupture, vascular disruption and embryonic dysgenesis. In this study we carried out the pathological evaluation of four fetuses with LBWC and their placentas. None of the cases had craniofacial defects. Three fetuses showed an abdominal wall defect with eventration of abdominal organs, cloacal exstrophy, absent external genitalia, abnormal internal genitalia, scoliosis and lower limb defects. One fetus showed failure of closure of both thoracic and abdominal walls with ectopia cordis, evisceration of left lung and abdominal organs, severe reduction defect of left arm, but normal colon, anus, bladder, genitalia and lower limbs. All cases had a short, malformed umbilical cord, incompletely covered by amnion. The umbilical vessels were embedded in an amniotic sheet which connected the skin margin of the anterior body wall defect to the placenta. These anomalies suggest an abnormal body stalk development as a pathogenic mechanism for LBWC. Prenatally, the abnormal fetoplacental attachment can be detected ultrasonographically by the end of the first gestational trimester. Postnatally, the examination of placenta, umbilical cord and membranes is crucial in confirming the diagnosis of LBWC.

Objective: To evaluate prenatal diagnosis of limb-body wall complex (LBWC) by ultrasonography in eight cases., Study Design: The diagnosis was based on two of the following: exencephaly/encephalocele with facial clefts, thoracoschisis and/or abdominoschisis and limb defect. The ultrasonographic findings were compared with the autopsy findings in each case., Results: The average weeks of gestation at which malformations were diagnosed by ultrasonography was 21.7 +/- 4.7 (mean +/- SD, n = 8). All eight fetuses were diagnosed as having characteristic abnormalities and six of them as having scoliosis by ultrasonography. Four of the eight were examined for maternal serum alpha-fetoprotein (MSAFP); the levels exceeded 2.5 multiples of the mean according to the standard value at our hospital. Chromosomal analysis was performed for six cases and revealed that they were normal in karyotype. All eight cases showed abdominoschisis, scoliosis and abnormalities of the lower extremities. A single umbilical artery was present in seven cases (87.5%), and a short umbilical cord was present in seven (87.5%)., Conclusion: Ultrasonographic detection of abdominoschisis, scoliosis abnormalities of the lower extremities, a single umbilical artery and a short umbilical cord is important for the prenatal diagnosis of LBWC. An extremely elevated level of MSAFP is also indicative of the complex.

The spectrum of defects in cases with limb body wall complex (LBWC) is quite variable since other anomalies are also observed in infants with LBWC, and some cases do not have limb deficiencies. Van Allen et al. [Am J Med Genet 1987;28:529-548] proposed that the diagnosis of LBWC (presence of body wall defects with evisceration of thoracic and/or abdominal organs, limb deficiency, and myelocystocele) should be based on the presence of two of three of the following anomalies: exencephaly or encephalocele with facial clefts, thoraco and/or abdominoschisis, and limb defects. This approach implies that an infant with encephalocele with facial clefts and limb defects may be considered as having LBWC, which I do not think is correct. I present the results of a clinical and epidemiological analysis aimed at identifying if, from an epidemiological perspective, it is possible to identify an entity which is characterized by the presence of abdominal wall defects along with other malformations including or not limb deficiencies. The result of this analysis allows us to consider that this entity should be characterized by the presence of abdominal wall defects with a variable spectrum of anomalies (with or without limb deficiencies) and, consequently, be called body wall complex (BWC). BWC includes cases regardless of their clinical pattern and the possible etiology or pathogenetic mechanism. Thus, the BWC entity does not include amniotic band sequence without body wall defects, but does include amniotic band sequence with body wall defects.

In 1965, Torpin [1965; Am J Obstet Gynecol 91:65-75] concluded that fetal constrictions and amputations were related to amniotic membrane rupture. Since then, this view was accepted widely, although different terms were used due to the variation in the types of associated anomalies. I consider that for those cases without body wall defects, the most appropriate term is amniotic band sequence (ABS), since amnion rupture could initiate a cascade of abnormalities (consequences) leading to the final structural defects. Here I present a clinical and epidemiological analysis of a series of consecutive infants with ABS, comparing their characteristics with those of infants with body wall complex (BWC). The results of this analysis suggest that ABS, from an epidemiological standpoint, is an entity different from BWC, and that amniotic bands in cases of BWC may be considered different from amniotic bands in cases without body wall defects. The former are probably produced earlier in the development than the latter.

Ultrasound examination in a 10-week fetus demonstrated a marked deformity of the lower half of the fetus that was in the celomic cavity, and the upper half of the body was in the amniotic sac. There was abdominal wall defect with herniation of the liver and bowel, the lower limbs were deformed and the umbilical cord was short and thin. These abnormalities were suggestive of body stalk anomaly. The diagnosis was confirmed by pathological examination after termination of the pregnancy at 18 weeks.

In a multicenter project of screening for chromosomal defects by fetal nuchal translucency thickness and maternal age at 10-14 weeks, 14 of 106,727 fetuses examined had body stalk anomaly. The ultrasonographic features were a major abdominal wall defect, severe kyphoscoliosis and a short umbilical cord. In all cases, the upper part of the fetal body was in the amniotic cavity, whereas the lower part was in the celomic cavity. The nuchal translucency thickness was above the 95th centile in ten (71.4%) of the cases, but the fetal karyotype was normal in all 12 fetuses evaluated. The findings suggest that early amnion rupture before obliteration of the celomic cavity is a possible cause of the syndrome.

A newborn who is believed to have an anterior midline abdominal wall fusion defect located in the epigastric region is presented, with a proposal of new nomenclature as "epigastric cleft."

Four neonates with the uncommon Cantrell's pentalogy seen in our hospital within a 6-month period without any apparent factor in common are described, with a review of the world literature. The first case was diagnosed prenatally at 15 weeks' gestation, the earliest intrauterine finding in the literature. The occurrence of imperforate anus with the syndrome, observed in one of the cases, has not been previously reported. Two were operated upon and only one of the four survived. This high mortality was confirmed by similar cases reported by other authors.

Cryptorchidism is frequently associated with gastroschisis, yet little is published on its management in such circumstances. In a review of 10 consecutive boys with gastroschisis since 1980, 4 had undescended testes. Gestational age and birth weight did not differ from the 6 boys with normally descended testes. The first two patients had associated arthrogryposis multiplex congenita. The first underwent bilateral orchidopexy at 9 years of age for inguinal testes. In the second patient, the left testis was intraabdominal at the level of the sigmoid colon at birth; at 3 months of age, when a left inguinal hernia repair was required, left groin exploration revealed the testis at the internal ring and orchidopexy was performed successfully. In the third patient the left spermatic vessels were divided at the time of gastroschisis repair and the testis anchored in the prebubic area. The second-stage orchidopexy was performed at 16 months. In the last patient the intraabdominal testis could be placed in a scrotal pouch without mobilisation or division of the vessels. From our experience and a review of the literature we conclude that: 1) undescended testes are frequently associated with gastroschisis; 2) mechanical factors rather than prematurity are likely responsible for this association; 3) if the testis easily reaches the scrotum, orchidopexy can be done safely at the time of gastroschisis repair; 4) if the testis does not reach easily and appears to have a gubernaculum, it may be preferable to leave it in place since spontaneous descent can occur.

Anterior abdominal wall defects are not too rare between developmental abnormalities. A case of abdominal wall defect associated with complex malformations diagnosed prenatally is reported in the paper. In the present case of limb-body wall complex a right sided abdominoschisis was associated with rotational abnormality of the lower limbs, clubfoot, scoliosis, meningomyelocele, lack of developed pelvic organs, consecutive dilatation of the upper urinary tract, anal atresia, lack of external genitalia, lack of diaphragm and hypoplastic lungs. Review of the pertinent literature has revealed over 100 cases that clearly indicate the possible phenotypic variation of the limb-body wall complex. These data add further evidence to support the existence of two different phenotypes and possibly pathogenesis under the heading of limb-body wall complex. The three principal theories on the possible aetiology of the complex are also discussed. Because the limb-body wall complex is incompatible with life, it is important to diagnose the lesions prenatally, and to differentiate them from other anterior abdominal wall defects. Serum alpha-fetoprotein measurement, and ultrasonographic examination are the key to prenatal diagnosis.

Clefts of the sternum have always attracted attention whether for pathological and physiological features or for research of surgical correction. Two cases of sternal cleft, one with partial ectopia cordis, the other with Cantrell's pentalogy, are presented. Embryology, strategies and several surgical techniques are discussed on the grounds of personal experience. The pediatric surgeon can make a choice among a lot of surgical techniques, because the ectopia cordis and Cantrell's pentalogy are very uncommon and the surgical treatment has a difficult codification. The knowledge of several methods of surgical correction is necessary to reduce high mortality of ectopia cordis and Cantrell's pentalogy. Primary repair in the neonatal period is the best type of management for these rare conditions, because simple closure of the sternal defect during the first month of life avoids the more complex reconstruction necessary in older children.

We retrospectively reviewed 27 cases of omphalocele and 15 cases of gastroschisis occurring among 62, 572 deliveries between 1987 and 1994. All cases had undergone prenatal sonographic examinations at a mean gestational age of 28 weeks. In cases of omphalocele, 59.3% (16/27) of fetuses were associated with multiple malformations and 16% (4/25) had chromosomal abnormalities. Among the 4 cases with an abnormal karyotype, three cases were associated with extracorporeal livers and two cases were associated with umbilical cord cysts. Prenatal ultrasound examinations during the second and third trimesters were able to detect 66.7% (18/27) of the cases of omphalocele and 66.7% (10/15) of the cases of gastroschisis. Failure in correctly diagnosing abdominal wall defects by prenatal ultrasound occurred mostly in cases associated with small defects, ruptured omphalocele, multiple fetal anomalies, intrauterine fetal death, twin pregnancies, or cases referred in late gestation. A comparison of perinatal data between omphalocele and gastroschisis reveals fetuses with omphalocele carry higher risks of associated malformations, chromosomal abnormalities, prematurity, and neonatal death. Although fetuses with gastroschisis have higher incidences of oligohydramnios and small for gestational age, the fetal prognosis after pediatric surgery is good.

We describe a case of concordant body stalk anomaly in monozygotic twins that manifested with umbilical cord agenesis, evisceration of abdominal contents, and multiple gastrointestinal, genitourinary, and skeletal anomalies. Body stalk anomaly in twin gestation is extremely rare and poses an embryological interest. We suggest that the hypothesis of 'incomplete twinning' might contribute to the pathogenesis of this syndrome complex.

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.

The authors review data from the Congenital Malformation Registry in South East Thames regarding fetal abdominal wall defects. Over 24 months, 80 cases were observed (40 gastroschisis, 40 exomphalos). Live-born infants with gastroschisis had few associated anomalies and an excellent prognosis (83% survival rate). Exomphalos is associated with an increased rate of life-threatening anomalies and chromosomal defects. The latter cases often are terminated prenatally. If these cases are excluded, the 1-year survival rate for liveborn infants with exomphalos is favorable (close to 80%). Fetuses in whom gastroschisis and exomphalos are identified by ultrasonography but who have no associated life-threatening chromosomal anomalies should have a favorable prognosis.

To determine whether associated anatomic features may be useful in predicting fetal prognosis, 43 fetuses who had ultrasonographic evaluation for abdominal wall defects during a 13-year period were reviewed. Thirty-one fetuses had omphalocele and were classified into three groups according to fetal ultrasonography results: ruptured omphalocele with exposed liver, giant omphalocele with exposed liver, and small omphalocele without liver herniation. Twelve fetuses had gastroschisis. Ten of the 12 fetuses with gastroschisis survived; one died in utero. Nine of the 12 with a small omphalocele survived. Ten of 12 fetuses with giant omphalocele survived, but six of the seven with ruptured omphalocele died of pulmonary hypoplasia and respiratory insufficiency. Ruptured omphalocele recognized in utero was accompanied by intrauterine growth retardation and liver herniation and frequently was associated with deformity of the spine, diaphragmatic defects, vesicointestinal fissure, and meningocele. These results indicated that, together with the deformity of the spine, rupture and absence of the covering membrane with an exposed liver (noted through fetal ultrasonography) may suggest a poor prognosis because of pulmonary hypoplasia.

The size and position of an anterior abdominal wall defect, its contents, and its association with other anomalies are features that can be diagnosed in utero with ultrasound and that allow a differential diagnosis to be made. The correct prenatal diagnosis is extremely important for patient management. The key feature for sonographically distinguishing these conditions is the position of the defect in relation to the umbilical cord insertion. Omphaloceles and pentalogy of Cantrell usually involve a midline defect at the umbilical cord insertion. Gastroschisis most frequently consists of a small, right-sided paraumbilical defect. Eccentric, large lateral defects are typically present in limb-body wall complex or amniotic band syndrome. Bladder and cloacal exstrophy involve the infraumbilical region. In addition, the size of the defect, the organs eviscerated, the presence of membranes or bands, and any associated abnormalities help determine the correct diagnosis. Increased knowledge of these uncommon fetal conditions should result in better detection, more accurate diagnosis, and improved management of anterior abdominal wall defects.

A child with phenotypic features of the 9p- syndrome, including metopic craniosynostosis, small ears, abdominal wall defect, and mental retardation, as well as hypopigmentation, was found to have a cytogenetically balanced 3;9 translocation, with breakpoints at 3p11 and 9p23, inherited from his phenotypically normal father. Molecular analysis showed heterozygous deletion of the TYRP (tyrosinase-related protein) locus, as well as loci D9S157, D9S274, D9S268, and D9S267, in the child but in neither parent. FISH analysis of the proband's father indicated that loci deleted in his son, including TYRP, were present on neither the der(3) nor the der(9) translocation products but had been inserted into the long arm of chromosome 8. Therefore, the apparent deletion of these loci in the proband was the result of meiotic segregation of the father's 3;9 translocation chromosomes together with his normal chromosome 8 (not bearing the insertion from 9p23). Neither the deletion of these 9p23 loci from the translocation chromosomes nor their insertion into 8q was detectable by standard chromosome banding techniques. The proband's sister exhibited speech delay, mild facial dysmorphism, and renal malformation, and her karyotype was 46,XX. Molecular analysis showed that she had inherited normal chromosomes 3 and 9, as well as the chromosome 8 with the insertion of 9p23 material, from her father.(ABSTRACT TRUNCATED AT 250 WORDS)