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Background and Objective: The Dyggve-Melchior-Clausen syndrome is a progressive spondyloepimetaphyseal dysplasia characterized by a short trunk dwarfism, barrel chest, sternal protrusion, kyphoscoliosis, severe platyspondyly, with a central constriction, irregular iliac wings with a lacy appearance, rhizomelic shortening of the limbs, microcephaly, coarse face, and variable mental retardation. This condition is extremely rare and the diagnosis is difficult without any previous experience on it. It is inherited as an autosomal recessive condition, its gene (DYM) having been mapped in the 18q12-21.1 chromosomal region. At least 21 different mutations of this gene have been reported., Material and Methods: We describe an affected Spanish child and include his molecular analysis. We also review the current knowledge on this syndrome., Results: The diagnosis of this patient, based on his clinical and radiological features, was later confirmed by analysis of the DYM gene mutations. The patient had two different mutations, one inherited from the mother and the other inherited from the father., Conclusions: One of the mutations of this patient (exon 8) is extremely rare and has mostly been reported in patients with Spanish ancestors (from Chile, Argentina, Guam islands and a French patient with Spanish ancestors). These observations, together with that of the patient described here, led us to consider this mutation as having a possible Spanish/Portuguese origin. This condition may be more frequent in Spain than previously thought, especially due to misdiagnosis. This is important in order to undertake quaternary prevention, which is quite necessary for rare syndromes with polysystemic affectation.

In 1950 Joseph Larsen described patients with facial dysmophism, joint hyperelasticity and multiple dislocations. Frequency is 1/ 100,000 live births. Sporadic cases have been reported in the literature in recent years. We analyzed a total of 22 patients with Larsen syndrome, all of them treated in our institution. We report their alterations and management, whether surgical or orthopedic, with a minimum follow-up of three years. After the follow-up we concluded that conservative treatment is fundamental and surgical interventions are indicated for: adduct club foot, patellofemoral dislocation, and unilateral hip dislocation.

Shwachman-Diamond syndrome (SDS) is the second most common cause of congenital exocrine pancreatic insufficiency after cystic fibrosis. SDS is an autosomal recessive multisystemic disorder, with wide heterogenicity in its clinical characteristics. The central features of this syndrome are pancreatic exocrine and bone marrow dysfunction (mainly neutropenia). Other features are skeletal abnormalities, hepatomegaly, elevation of serum aminotransferase levels, short stature and frequent infections. We present two patients who were referred to us because of persistent hypertransaminasemia. In both patients, liver function returned to normal and pancreatic function improved. Both patients showed several neutropenic episodes but no bone disorders, which does not exclude the diagnosis.

Topiramate is a new generation, antiepileptic drug used for the treatment of persistent partial crises. To date no specific teratogenic effects have been reported in humans, but they have appeared in experimental animals. We present the case of a neonate whose mother suffered from partial epilepsy, which was treated with topiramate throughout pregnancy at doses of 300 mg per day. When the child was born agenesis of the right thumb, hypoplasia of the left thumb, and syndactylia of the second and third toes of the foot with agnesis of some phalanges, and hypoplasia of the right orbicular muscle in the mouth were observed. No etiologic cause was found. We discuss whether there could have been a causal relationship with topiramate monotherapy.

Objective: To present a patient of 35 years with Costello syndrome., Material and Methods: A male consulted at 11 months of age because of psychomotor delay and peculiar face., Results: The main clinic features corresponded to the cutis laxa disease, although the picture and the results of the performed studies were not similar to any of the dysmorfic recognized syndromes., Conclusion: The follow-up of the patient during 35 years showed a long survival, despite the cardiopathy, although he has a severe psychic retardation, showed very low height and weight centiles, and very high head circumference centiles.

Russel-Silver syndrome is characterized by severe intrauterine growth retardation and is the most characteristic intrauterine dwarfism syndrome. In addition to short stature, low birth weight and reduced postnatal growth, this syndrome is characterized by features such a relative macrocephaly, a typical craniofacial appearance, asymmetry of the body and other abnormalities. Recent studies on developmental delay in these children have shown that most require special education. Attempts to explain the mechanism underlying this condition have been unsuccessful. Recent studies suggest a genetic cause, mainly uniparental disomy 7, although definitive data are lacking. We report a characteristic case of Russel-Silver syndrome: a newborn with fetal growth retardation, the craniofacial features described by Russel, relative macrocephaly, asymmetry of the body and very low weight increase.

Russel-Silver syndrome is a pattern of malformations whose most characteristic features are intrauterine and postnatal growth retardation, a characteristic facial appearance and limb asymmetry. We report a 9-month-old male born at 37 weeks' gestation. Family history, pregnancy and delivery revealed no significant anomalies. The infant had no intrauterine growth retardation (birth weight and height ranging between the 25 th and 50 th percentile). The infant's head circumference was disproportionately large for the small facial mass. Clinical findings included a small triangular face with frontal bossing, blue sclerae, thin lips with down-turned corners, retromicrognathia, clinodactyly of the fifth finger in both hands and limb asymmetry with undergrowth of the right leg and the left arm. The patient presented postnatal growth deficiency with weight and height 5th percentile; his head circumference grew normally along the 90 th percentile. Psychomotor development was appropriate for his age (9 months) according to the Sheridan Scale. On the basis of this clinical evidence we diagnosed Russel-Silver syndrome, attributing particular relevance to the normal intrauterine growth and the crossed asymmetry of the limbs.

Background: Shwachman syndrome has been recognized as the second most frequent cause of pancreatic insufficiency in children and its is related to hematological and bony abnormalities., Aims: To know the main clinical symptoms, analytical data, radiological and sonographic findings in the Shwachman syndrome., Materials and Methods: We present a 1 year 4 months old girl with Shwachman syndrome. We reviewed the clinical history taking into consideration height/weight relationship according to percentiles and physical examination. Analytical data: blood counts, fetal hemoglobin, vitamin B12 and folate levels, bone marrow examination, stool cultures and examination for ova and parasites, transaminase levels, sweat electrolytes, serologic tests for viral hepatitis. Radiological studies: bone series and bone age, abdominal sonography and computed tomography. Liver and intestinal biopsies., Results: In this patient we confirmed the presence of exocrine pancreatic insufficiency, dysfunction of the bone marrow and bony abnormalities typical in Shwachman syndrome.

We describe a case of generalized muscle rigidity in a 2-year-old patient with Freeman-Sheldon syndrome undergoing surgery for eventration of the diaphragm after anesthetic induction with halothane and succinylcholine. Anesthetic induction was by mask with oxygen, nitrous oxide and halothane, with succinylcholine as a muscle relaxant. Approximately 10 minutes after start of induction, muscular rigidity appeared and developed rapidly, becoming severe and compromising ventilation. Tracheal intubation was attempted without success, owing to stiffness of the masseter muscles. Sodium dantrolene 2.5 mg/kg was administered and relaxation was achieved immediately for both masseter and peripheral muscles, such that the patient recovered spontaneous breathing. We conclude that there is risk of association between Freeman-Sheldon syndrome and malignant hyperthermia.

The Fryns' syndrome is characterized by multiple congenital deformities such as cranio-facial anomalies, diaphragmatic hernia, pulmonary hypoplasia, distal anomalies of the extremities and diverse cardiovascular, digestive, urogenital and central nervous system malformations. Heredity trait is recessive-autosomic with variable expression. Mortality is the rule. Diagnosis must be suggested by early polyhydramnios, premature delivery, familial tendency and perinatal mortality. In the present paper, a case with the most significant features and with other features not previously described is reported.

The dysmorphogenic and teratogenic effects of valproic acid, when administered to pregnant women, have been noted in several reports. We report the case of a 3-month-old infant with multiple congenital anomalies, including severe skeletal malformations, congenital heart defect and facial dysmorphism, whose mother was treated with valproic acid (1000 mg/day) throughout the pregnancy. This is the second published case reporting major skeletal malformations and supports the possible teratogenic effects of valproic acid.

We describe a twentieth month old infant who had a pycnodysostosis syndrome. This malformation shows a loss of the normal mandible angle with generalized bone hyperdensification. The first produced and airway obstruction, with special relevance during sleeping hours. A polysomnography revealed an obstructive sleep apnea syndrome. The respiratory picture deteriorated with worsening of the airway obstruction, hypoxemia and finally pulmonary hypertension and cor pulmonale. A tracheostomy was performed, with resolution of the sleep apnea and pulmonary hypertension. The etiology, pathophysiologic consequences and surgical treatment of obstructive sleep apnea syndrome is reviewed.

Three patients who presented cloverleaf skull are described. The first one associated with tanatophoric dwarfism, the second case was an isolate anomaly and the third one was associated with facial fissures. The three patients showed the outstanding diversity of the clinic manifestations encountered in this entity. The findings at central nervous system level, by computarized tomographic and ultrasonographic studies, are described. The relevance of genetic counselling is emphasized.

Associated malformations present in 277 newborn patients operated during the last sixteen years for esophageal atresia and tracheoesophageal fistula are described. Incidence on concomitant anomalies of each organ system is compared to that published by various authors during this period of time. Mortality, as related to each organ system and to the patient classification according to Waterston risk-groups, is studied during two different periods (1965-1975 and 1976-1981) considering in the second one a significant improvement of pre and postoperative care.

Authors report a new case of osteodisplasty (Melnick-Needles syndrome) and describe radiological findings that are typical of this entity: bony sclerosis of base structures, abnormal dental alignment, sclerosis and irregularity of clavicles and ribs, described as "band-like" deformity, cortical irregularity of tubular bones with metaphyseal flaring and diaphyseal bowing. Flat bones are broadened, particularly iliac crest and vertebral bones. Facial features described by the majority of authors in this entity are present in our patient in an incomplete form: craniofacial disproportion, micrognatia, depressed temples, exophthalmus (not in our patient) and broadened forehead. The paper is intended to gather clinical data of already reported cases in order to facilitate clinical research in the future from the immunological, genetical and biochemical points of view. Our patient has the same clinical history as the patient studied in the original paper. Dr. Melnick was kind enough to send us clinical data and autopsy findings.

Four cases of Aicardi's syndrome are presented, reporting in two of them angiographic and bone abnormalities such as arterial microaneurysm and scapula displacement, that have not been previously reported in the literature.

The association in young girls of flexion spasms of early beginning, partial or total agenesis of the corpus callosum, severe chororetinopathy and frequent skeletal anomalies is known as the Aicardi syndrome. On occasion of two observations a review of the literature is made.

Juvenile fibromatosis has been largely studied by several authors. Most of them have pointed out the existence of some disorders which are difficult to classify and possess peculiar features. The authors report the case of a girl who presented several tumoral lesions located on the soles and toes from birth. The clinical aspect and the histological study didn't allow us to include this patient in any determinates group. She also presented some associated skeletal alterations.

Nine girls with Incontinentia Pigmenti are presented, two of them associated to different genetic syndromes. All the patients are female, characteristic of genetic transmission, linked to dominant x, lethal for males; one of the patients also presents the Larsen Syndrome and another has got her illness associated to the Chotzen Syndrome; in these cases we can observe the coexistence of two syndromes, genetically determined. A revision of the clinical, histopathological and genetic characteristics of this disease is made.

The true entity of Seckel's (bird headed dwarfism) has been hardly questioned due to the variety of malformations reported in these patients. However all cases reported have in common: dwarfism, bird head, microcephaly, mental retardation and malformations of different kinds. All these features must be present for the correct diagnosis. In two cases of Seckel's syndrome, full diagnostic features and post-mortem findings are reported. Special emphasis is made on the neuropathologic lesions. For the first time in the literature, changes in the epiphyseal tibial cartilage (with histochemical and EM studies) are described and correlated to dwarfism. Based on morphological data the authors propose Seckel syndrome as a condrodysplasia.

Two cases of trisomy 9p, are reported affecting different break points involving chromosome 9; one of them showed skeletal abnormalities of importance. An analysis of the two cases reported is done and some of the last hypothesis in order to determine genetical and clinical correlations of the syndrome are considered.

We report two familial cases of Iso-Kikuchi sindrome, (mother and son). Patient one with small bone abnormalities under mycronychya, and patient two with atopic dermatitis. Literature cases are reviewed.

This paper presents the anatomoclinical study accomplished on a patient with Menkes Syndrome, which shows typical clinical, radiological and anatomopathological changes, as well as very low levels of copper. The hair changes observed with scanning electronmicroscopy are shown. Through the study of the literature the actual controversy on this disease is analyzed.

Four cases otocraniumfacial syndromes with asymmetrical affectation of the face are presented. Clinic, radiologic and genetic studies are made. Authors comment the difference between Goldenhar's syndrome and hemifacial microsomia. Finally the etiopathogenic thesis, differential diagnostics and treatment are commented.

Authors report a representative case of basal cell nevus syndrome with great expressivity. The patient is a thirteen-year and ten-month-old girl. She shows the five major criteria of this disease: basal cell nevi, jaw cysts, skeletal abnormalities (bifid ribs, block vertebrae, rachischisis), ectopic calcifications (falx cerebri, tentorium cerebelli, interclinoid ligaments) and pits on the palms of both hands. Moreover the patient had a right ovarian fibroma with a lot of calcified zones inside as well as several small fibromas of the left ovary. Giantism was associated with this syndrome. This finding has not been published before.

Authors described a new case of Coffin Lowry syndrome which presents a severe form, typical of males. Slight degree of affection in the mother and sister supports hypothesis of X-linked dominant trait. Authors want to underline normal appearance of the newborn period and progressive appearance of both neurological alterations and typical face of this condition. They have observed repetitive pneumonia probably produced by alimentary aspiration.