Wiedemann-Beckwith syndrome: clinical, cytogenetical and radiological observations in 39 new cases.

Thirty-nine patients (82% under 1 year of age) with Wiedemann-Beckwith syndrome (WBS) were prospectively studied. To evaluate the somatometric data the normal range was set out at mean +/- 2 SD. The relevant physical findings were a characteristic face, non increased mean height and weight, normal head circumference, defective abdominal wall, a predominance of the upper segment, and tibial bowing.

Severe Silver-Russell syndrome and translocation (17;20) (q25;q13).

An 8-year-8-month-old girl with Silver-Russell syndrome (SRS) and a paternally inherited balanced t(17;20)(q25;q13) is described. This observation suggests that an SRS gene(s) maps on chromosome 17 or 20 and that the patient phenotype resulted from either unmasking of heterozygosity or genomic imprinting via paternal disomy.

[Rheumatic features of Grave's disease in children].

We report three cases from girls with Graves disease who developed serious rheumatic manifestations. One patient had systemic lupus erythematosus with articular, renal, neurological and cardiac afectation with fatal outcome. Other patient presented clinical features of scleroderma with skin thickness, myopathy, arthritis, Raynaud's phenomenon and findings of pulmonary fibrosis.

The Wiedemann-Beckwith syndrome in four sibs including one with associated congenital hypothyroidism.

Two boys and two girls from a sibship of six, affected with the Wiedemann-Beckwith syndrome (WBS), are reported. One of the patients also had congenital hypothyroidism, an association hitherto undescribed and possibly fortuitous. Neither stigmata of WBS in other family members nor parental consanguinity were found, indicating a possible autosomal dominant inheritance comprising either a delayed mutation of an unstable premutated gene or non-penetrance.

Tetrasomy 9p: clinical aspects and enzymatic gene dosage expression.

A girl aged 13 years and 9 months with a phenotypic appearance of 9p trisomy was studied. Chromosome analysis of peripheral blood lymphocytes revealed a 9p tetrasomy [47,XX,+i(9p)] with no evidence of mosaicism. Biochemical studies corroborate the gene dosage effect for galactose-1-phosphate uridyltransferase.

A new probably autosomal recessive cardiomelic dysplasia with mesoaxial hexadactyly.

A distinct probably autosomal recessive syndrome was ascertained in a 17-year-old boy and his deceased sister. The main features were cardiac dysplasia, peculiar facies, central bilateral (mesoaxial) hexadactyly, synmetacarpalia, short stature, ocular torticollis, and delayed puberty.

Peutz-Jeghers syndrome with feminizing sertoli cell tumor.

A case involving a 6-year-old boy with Peutz-Jeghers syndrome and an unilateral feminizing Sertoli cell tumor is described. Endocrinologic studies revealed consistently high plasma and urine levels of estrogens and normal levels of testosterone and dihydrotestosterone. The increased levels of estrogens did not show changes that could be correlated with exogenous gonadotropin administration, thus indicating an autonomous nature.