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New Lethal Skeletal Dysplasia with Dandy-Walker Malformation, Congenital Heart Defects, Abnormal Thumbs, Hypoplastic Genitalia, and Distinctive Facies

We report on two sibs with a lethal form of bone dysplasia with distinctive skeletal findings including rhizomelic and mesomelic limb shortening, hooked clavicles, dumbbell femurs, and absence of talus and calcaneus ossification. Other clinical features include Dandy-Walker malformation, congenital...

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Detalhes bibliográficos
Main Authors: Stevens, Cathy A., Lachman, Ralph S.
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3097391/
https://ncbi.nlm.nih.gov/pubmed/20602491
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33488
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