Literature DB >> 6209982

Weaver-Smith syndrome. A case study with long-term follow-up.

N Amir, E Gross-Kieselstein, H J Hirsch, E Lax, R Silverberg-Shalev.   

Abstract

We studied a 6-year-old-boy who was followed up from infancy and who had Weaver-Smith syndrome (WSS), a syndrome characterized by excessive growth, dysmorphic facies, psychomotor retardation, and specific radiologic features. The child's height and bone age were far greater than his chronological age and he demonstrated hypothyroidism at the age of 6 years, but had no endocrinologic abnormalities when he was examined at 11 months of age and again at 4 years of age. We compared the clinical and laboratory features of this child with all other reported cases of WSS.

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Year:  1984        PMID: 6209982

Source DB:  PubMed          Journal:  Am J Dis Child        ISSN: 0002-922X


  5 in total

1.  Weaver syndrome.

Authors:  T R Cole; N R Dennis; H E Hughes
Journal:  J Med Genet       Date:  1992-05       Impact factor: 6.318

2.  Familial neurofibromatosis type 1 associated with an overgrowth syndrome resembling Weaver syndrome.

Authors:  C J van Asperen; W C Overweg-Plandsoen; M H Cnossen; D A van Tijn; R C Hennekam
Journal:  J Med Genet       Date:  1998-04       Impact factor: 6.318

3.  Macroepiphyseal dysplasia with symptomatic osteoporosis, wrinkled skin, and aged appearance: a presumed autosomal recessive condition.

Authors:  W H McAlister; J D Coe; M P Whyte
Journal:  Skeletal Radiol       Date:  1986       Impact factor: 2.199

4.  A girl with the Weaver syndrome.

Authors:  E M Thompson; S Hill; J V Leonard; M E Pembrey
Journal:  J Med Genet       Date:  1987-04       Impact factor: 6.318

5.  Childhood onset autosomal dominant polycystic kidney disease in sibs: clinical picture and recurrence risk. German Working Group on Paediatric Nephrology (Arbeitsgemeinschaft für Pädiatrische Nephrologie.

Authors:  K Zerres; S Rudnik-Schöneborn; F Deget
Journal:  J Med Genet       Date:  1993-07       Impact factor: 6.318

  5 in total

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