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Is this the Coffin–Siris syndrome or the BOD syndrome?

✍ Scribed by Ariel Brautbar; Judith Ragsdale; Marwan Shinawi

Publisher: John Wiley and Sons
Year: 2009
Tongue: English
Weight: 110 KB
Volume: 149A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.32671

No coin nor oath required. For personal study only.

✦ Synopsis

Coffin and Siris [1970] described three unrelated girls with mental impairment and growth restriction associated with the absence of the nail and distal phalanx of the fifth finger. Since then, more than 70 additional patients have been described with similar features. Fleck et al. [2001] presented a comprehensive review of the clinical manifestations of Coffin-Siris syndrome (CSS) and proposed minimal clinical diagnostic criteria [Fleck et al., 2001]. These criteria include developmental delay, coarse facial features, hirsutism, and hypoplastic or absent fifth fingernails or toenails or fifth distal phalanges.

Senior [1971] described six children with short stature, tiny dysplastic nails in one or more of the toes bilaterally, short fifth fingers, wide mouth, broad nose, and mild intellectual deficit. Although there was an overlap between the phenotypic findings of the Coffin-Siris and the ''Senior'' syndromes, some authors have suggested that the latter, which was subsequently called brachymorphism-onychodysplasia-dysphalangism (BOD) syndrome, is a distinct and separate entity [

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