Central nervous system malformations in Mohr's syndrome.

A boy with severe developmental delay, bilateral, symmetrical hallucal duplication, and accessory alveolar frenula was found to have radiological evidence of a large arachnoid cyst compressing the cerebellum and brain stem. We review neurological abnormalities in Mohr's syndrome.

Linfangiectasia pulmonar congénita / Congenital pulmonary lymphangiectasis

Presentamos el caso de un recién nacido con linfangiectasia pulmonar congénita no asociada a otras malformaciones congénitas, que falleció dentro de las primeras 24 horas de vida, destacando los aspectos clínicos, radiológicos y anatomopatológicos

Malignant mixed germ cell tumor of the ovary in a young woman with Smith-Lemli-Opitz syndrome.

The first known case of a malignant germ cell tumor of the ovary occurring in a patient with Smith-Lemli-Opitz syndrome is reported.

Ebstein's anomaly and extracardiac defects.

Ebstein's anomaly of the tricuspid valve occurs as an isolated defect with other forms of congenital heart disease such as transposition of the great arteries or tetralogy of Fallot or, rarely, in association with extracardiac malformations. Because so little is known about this latter group, we studied four cases clinically, at autopsy, and by means of a retrospective chart review. Major extracardiac changes most often involved the craniofacial region, central nervous system, and limbs. Karyotypes were normal, and no distinctive syndromes or anatomic patterns were identified. Since the timing of Ebstein's anomaly is quite precise, ascertainment of such cases on the basis of cardiac morphology may enhance the understanding of etiology and pathogenesis. Both causes and mechanisms may well be diverse, for the clinical histories and anatomic findings in present and previously reported cases vary considerably. Isolated Ebstein's anomaly may develop from topographically and temporally localized damage. Ebstein's anomaly with extracardiac defects may involve damage during a longer, and perhaps earlier, period.

Keratoglobus in the Rubinstein-Taybi syndrome.

The case of a 20-year-old male with the Rubinstein-Taybi syndrome associated with unilateral acute corneal hydrops is presented. The initial findings were of keratoglobus, but after the corneal oedema had settled the cornea assumed a more conical contour. The relationship between keratoglobus, keratoconus, and acute hydrops is discussed.

[Childhood obesity as a symptom of genetic syndromes]. / Detská obezita jako príznak genetických syndromu.

The authors describe on examples from the practice of a genetic clinic seven different genetic syndromes associated with obesity: Laurence-Moon-Biedl, Alström, Weiss, Cohen, Carpenter, Prader-Willi and syndrome of insulin resistance. The autosomal recessive determination of the majority of these syndromes emphasizes their genetic impact with a high risk of repeated occurrence in the family. Visual and hearing defects increase clinical and social importance of these syndromes. When evaluating the genetic prognosis of risk families, the authors consider the possibility of prenatal diagnosis and its forms and the risk of implementation of a preventive method. In some instances obesity is a manifestation of a disorder of insulin receptors.

Complete heart block in the 18p--syndrome. Congenital calcification of the atrioventricular node.

Complete heart block exists when the atria and ventricles beat completely independently of each other. It is heterogeneous with respect to pathogenesis. Occasionally, complete heart block may be symptomatic in infancy. Rarely, it is associated with genetic syndromes. Cardiac abnormalities are unusual in the 18p-syndrome. We describe a female stillborn infant who had 18p-syndrome with hydrops fetalis and complete heart block secondary to atrioventricular node calcification.

Occipitoatlantoaxial malformation with duplication of the atlas and axis in a half Arabian foal.

An unusual occipitoatlantoaxial malformation is described in a 2-week-old male part Arabian foal that was unable to stand at birth and showed signs of spastic tetraparesis due to a cervical spinal cord compression. There were 2 atlases present. One was fused to the occipital bones. The other articulated with the first atlas and an axis which had a long dens that projected into the vertebral canal. Examination of the ossification centers of the axis indicated partial duplication of that bone.

Oesophageal atresia and associated anomalies.

Of 253 infants with oesophageal atresia treated over an eight year period, 122 (48%) had a total of 213 other anomalies. Most commonly affected were the cardiovascular (61 cases, 29%), anorectal (30 cases, 14%), and genitourinary (29 cases, 14%) systems. The VATER (or VACTERL) association was present in 10% of cases, but occurred more often in patients who had oesophageal atresia without an associated tracheo-oesophageal fistula (3/13, 23%). The level of the associated anorectal malformation was not associated with the type of oesophageal atresia. The presence and severity of other anomalies did not influence the basic approach to treatment of the oesophageal atresia--that is, primary repair whenever possible. Despite aggressive treatment, cardiac malformations were the most common cause of death. There were five infants with the CHARGE association, two with Potter's syndrome, and two with 'SCHISIS' syndrome (cleft lip and palate, omphalocoele, and hypogenitalism).