Sibs with cleidocranial dysplasia born to normal parents: Germ line mosaicism?

✍ Scribed by Zackai, Elaine H.; Robin, Nathaniel H.; McDonald-McGinn, Donna M.

• Book ID: 101216676
• Publisher: John Wiley and Sons
• Year: 1997
• Tongue: English
• Weight: 171 KB
• Volume: 69
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19970414)69:4<348::aid-ajmg2>3.0.co;2-h

✦ Synopsis

Cleidocranial dysplasia (CCD) is classically an autosomal dominant disorder. However, the possibility of an autosomal recessive form of CCD has been suggested based on a report of 2 consanguineous families, one with a single affected child, the second with affected sibs, born to normal parents. We present a family with sibs with CCD born to normal parents, and suggest germ line mosaicism as the more likely mechanism for this occurrence. Am. J. Med. Genet. 69:348-351, 1997.