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Holoprosencephaly with microphthalmia, hypoplastic ears, vertebral segmentation defects, and congenital heart defects

✍ Scribed by Lucilene Arilho Ribeiro; Rita de Cássia M. Guerini; Antonio Richieri-Costa


Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
79 KB
Volume
136A
Category
Article
ISSN
1552-4825

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✍ Cathy A. Stevens; Ralph S. Lachman 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 264 KB 👁 1 views

## Abstract 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