We report on four Japanese sibs (three brothers and one sister) with a previously unreported syndrome of spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate, and mental retardation. Most clinical manifestations were evident neonatally, but skeletal changes and cataracts became su
✦ LIBER ✦
Sib pair with previously unreported skeletal dysplasia
✍ Scribed by André Mégarbané; Rawane Dagher; Imad Melki
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 159 KB
- Volume
- 146A
- Category
- Article
- ISSN
- 1552-4825
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## Abstract In this report, we describe a brother and sister who presented at birth with short‐limb skeletal dysplasia, polyhydramnios, prematurity, and generalized edema. Dysmorphic features included broad nose, thick ears, thin lips, micrognathia, inverted nipples, ulnar deviation at the wrists,