Geleophysic dysplasia, a rare disorder with autosomal-recessive inheritance, is characterized by short stature with a "happylooking" facial appearance. Nonskeletal findings, particularly in an advanced stage, include hepatosplenomegaly and valvular cardiopathy. Based on the clinical picture and the
β¦ LIBER β¦
Ocular findings in geleophysic dysplasia
β Scribed by Xiaoyan Zhang; Richard G. Boles; Simon K. Law; Michael Lin
- Book ID
- 116589204
- Publisher
- Elsevier Science
- Year
- 2004
- Tongue
- English
- Weight
- 163 KB
- Volume
- 8
- Category
- Article
- ISSN
- 1528-3933
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## Abstract Geleophysic dysplasia is an autosomal recessive shortβlimbed, dysmorphic syndrome. The condition is frequently associated with cardiac valvular disease, which may result in secondary hypertrophy and cardiac failure. We describe two distantly related Pakistani children with classical fea
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