A probable case of familial Weaver syndrome associated with neoplasia

In 1974, Weaveret al 1 described a syndrome of accelerated growth and advanced bone age associated with macrocephaly, developmental delay, and distinctive facies with a broad forehead, hypertelorism, large ears, micrognathia, and a long philtrum. Since the original report, over 30 cases have been pu...

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Bibliographic Details
Published in:Journal of medical genetics 1999-09, Vol.36 (9), p.725-728
Main Authors: DERRY, CHRIS, TEMPLE, I KAREN, VENKAT-RAMAN, K
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - diagnosis
Abnormalities, Multiple - genetics
Adult
Age
Bones
Chemotherapy
Child
Female
Growth Disorders - genetics
Humans
Letters to the Editor
Male
Ovarian Cysts - genetics
Phenotype
Sinuses
Tumors
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Summary:In 1974, Weaveret al 1 described a syndrome of accelerated growth and advanced bone age associated with macrocephaly, developmental delay, and distinctive facies with a broad forehead, hypertelorism, large ears, micrognathia, and a long philtrum. Since the original report, over 30 cases have been published. [...]an inheritance pattern might also explain why the syndrome appears to be more common in males; reports to date suggest the condition is diagnosed almost twice as frequently in males than females. 6 However, Dumic et al 7 reported a case of twins (a boy and a girl) both affected with Weaver syndrome and their mother who was tall and macrocephalic, with large ears, a hoarse voice, and thin, deep set nails.
ISSN:0022-2593
1468-6244
DOI:10.1136/jmg.36.9.725