Lethal skeletal dysplasias (LSD) are a heterogeneous group of rare but important genetic disorders characterized by abnormal growth and development of bone and cartilage. We describe the diagnosis and outcome of 29 cases of lethal skeletal dysplasias evaluated between January 1989 and December 1996
✦ LIBER ✦
OP23.08: Early pregnancy differentiation of lethal and non-lethal skeletal dysplasias
✍ Scribed by A. Khalil; A. W. Tan; L. Chitty
- Book ID
- 112230182
- Publisher
- John Wiley and Sons
- Year
- 2010
- Tongue
- English
- Weight
- 50 KB
- Volume
- 36
- Category
- Article
- ISSN
- 0960-7692
- DOI
- 10.1002/uog.8143
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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,