Achondrogenesis: A review with special consideration of achondrogenesis type II (langer‐saldino)
- 1 January 1981
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 10 (4) , 379-394
- https://doi.org/10.1002/ajmg.1320100411
Abstract
We describe two dwarfed infants with large head, short neck and chest, prominent abdomen, and short limbs. Both died neonatally. Radiographic and morphologic characteristics identified the Langer‐Saldino form of achondrogenesis (type II). Review of type II achondrogenesis documented distinctive clinical and anthropometric manifestations (fewer stillbirths, longer survival time and gestational period, larger size of the baby, longer limbs, and characteristic craniofacial features) as compared with type I achondrogenesis (Parenti‐Fraccaro).Keywords
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