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A newly recognized autosomal recessive syndrome with short stature and oculo-skeletal involvement

✍ Scribed by André Mégarbané; Ismat Ghanem; Naji Waked; Fernand Dagher


Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
266 KB
Volume
140A
Category
Article
ISSN
1552-4825

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## Abstract We describe three cases of a severe malformation syndrome in siblings of both sexes. The characteristic features observed were absent intrauterine ossification of an apparently normal cartilaginous spinal column; rib abnormalities, with unossified segments and posterior gaps; thoracic h