title: Sibs with cleidocranial dysplasia born to normal parents: germ line mosaicism?
abstract: 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.
authors.affiliation: Chidren's Hospital of Philadelphia, Division of Human Genetics and Molecular Biology, Pennsylvania 19104, USA.
authors.forename: E H
authors.initials: EH
authors.lastname: Zackai
authors.forename: N H
authors.initials: NH
authors.lastname: Robin
authors.forename: D M
authors.initials: DM
authors.lastname: McDonald-McGinn
mesh_terms: D002973:Cleidocranial Dysplasia / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005854:Germ Cells; D006801:Humans; D007231:Infant, Newborn; D009030:Mosaicism; D013902:Radiography, Thoracic; D012886:Skull / Q000000981:diagnostic imaging