We report a family with a rare association of congenital bilateral cataract and cleft palate that has not to our knowledge been previously reported. The lineage has unveiled abnormalities over four generations affecting 21 people with congenital bilateral cataract, with or without cleft palate. The transmission seems autosomal dominant. Four brothers and sisters presented with this defect, and a fifth sister is healthy. The mother has facial dimorphism, congenital bilateral cataract, submucous cleft palate, clinodactyly, and scoliosis. The propositus’ karyotype was normal. Array comparative genomic hybridisation (CGH) analysis showed an interstitial amplification in Xp21.1, found in the mother, in all the affected siblings but one, and in the healthy girl. Thisl association is not rare and has been reported in over 50 syndromes but rarely in familial observations. Based on the genetic-clinical discordance we wonder about the deleterious impact of the Xp21.1 amplification that might be a copy number polymorphism.
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Published online: December 08, 2011
Accepted: November 14, 2011
© 2011 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.