Six fetuses with normal chromosomes were found to have severe craniofacial, limb, and visceral malformations during the second trimester of pregnancy. Two of these fetuses were monozygotic twins while a third one had a healthy dizygotic twin brother. A case with familial recurrence was also observed
✦ LIBER ✦
A severe clinical and pathological variant of central core disease with possible autosomal recessive inheritance
✍ Scribed by A.Y Manzur; C.A Sewry; J Ziprin; V Dubowitz; F Muntoni
- Book ID
- 117670965
- Publisher
- Elsevier Science
- Year
- 1998
- Tongue
- English
- Weight
- 202 KB
- Volume
- 8
- Category
- Article
- ISSN
- 0960-8966
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## Abstract Adams–Oliver syndrome (AOS) is a well‐known rare syndrome of cutis aplasia in combination with limb defects. Recent reports have been published discussing the clinical variability and apparent genetic heterogeneity seen in some affected individuals and families with particular attention