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Autosomal recessive cerebellar hypoplasia and endosteal sclerosis: A newly recognized syndrome

✍ Scribed by Charrow, Joel ;Poznanski, Andrew K. ;Unger, Frances M. ;Robinow, Meinhard

Publisher: John Wiley and Sons
Year: 1991
Tongue: English
Weight: 473 KB
Volume: 41
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320410417

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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