Trisomy 20q. A new case and further phenotypic delineation.

The present report concerns the clinical and cytogenetic findings in a liveborn girl with trisomy for the long arm of chromosome 20. She was the unbalanced product of a maternal t(18;20)(q23.2;q13.

Nonimmune hydrops fetalis associated with genetic abnormalities.

The purpose of this review of the literature on nonimmune hydrops fetalis was to evaluate whether recent clinicopathologic studies have modified the relative incidence of the different associated conditions and the management of these pregnancies. We found 600 cases of nonimmune hydrops fetalis published since 1982. These cases were reviewed with particular attention to genetic causes and were compared with a literature review of 298 cases published before 1982.

Lethal short-rib with median cleft and without polydactyly: a fourth case.

A new case of Beemer short-rib lethal dwarfism is presented in a 27 weeks fetus with discussion of the radiological and clinical pecularities. Differential diagnosis with other short-rib-polydactyly syndromes is briefly developped.

Bradycardia in a case of type II glycogenosis (Pompe's disease) revealing in early neonatal period.

A case of type IIa glycogenosis presenting in early neonatal period is described. An unusual bradycardia and slow recovery from acute fetal distress were the leading signs. It is suggested to include metabolic myocardiopathies in the differential diagnosis of bradycardia in the newborn.

Roberts-SC phocomelia syndrome with exencephaly.

We report a 18 weeks old fetus with the typical limb reduction anomalies of SC phocomelia syndrome, associated with exencephaly and unilateral anophthalmia, a feature previously reported in only 2 cases of severe Roberts syndrome. This observation brings another argument for lumping both diseases in a unique Roberts-SC phocomelia syndrome. Diagnosis was settled by the observation of premature centromeric splitting.

Per rectal thallium scintigraphy for the assessment of portosystemic shunt: an experimental study in the bile duct ligated rats.

Bile duct ligated rats (n = 7) have been investigated for 6 months. Two patterns of evolution have been observed: (i) progressive development of cirrhosis and portosystemic shunt (detected by 201Tl per rectal scintigraphy) in three animals, (ii) repermeabilization of the biliary tract in four animals. Despite the small number of animals investigated, the 201Tl per rectal scintigraphy seems to be a good indicator of portosystemic shunt secondary to biliary cirrhosis.

Severe congenital cutis laxa with pulmonary emphysema: a family with three affected sibs.

Clinical and morphologic findings in 3 sibs with congenital cutis laxa are presented. A severe urinary malformation in one affected infant is reported in detail. Elevated serum copper concentrations were observed in 2 of the sibs and in the healthy mother.

Adverse cutaneous drug reactions in AIDS.

A maculopapular rash is reported in a girl with AIDS and Pneumocystis carinii pneumonia treated with co-trimoxazole. AIDS patients seem to be at increased risk of adverse drug reactions.