Mandibulofacial dysostosis, microtia, and limb anomalies in a newborn: a new form of acrofacial dysostosis syndrome?

Abstract

The acrofacial dysostoses (AFDs) are a heterogeneous group of disorders involving craniofacial dysostosis and limb anomalies. Depending on the type of limb defects, two major groups have been defined: Nager syndrome with predominant preaxial anomalies and Miller syndrome with postaxial malformations. Genomic copy number variation, a common type of genomic variability, can influence gene expression by disrupting coding sequences, perturbing long-range gene regulation, or altering gene dosage, and these effects could contribute to phenotypic variations or disease risk. We present a distinct AFD case with mandibulofacial dysostosis, microtia and limb malformations but without limb defects, which may represent a new form of AFD. To investigate the etiology of the phenotype, whole genomic high-resolution array comparative genomic hybridization analysis was carried out, revealing two cryptic duplications, 1p36.33 and 1q21.3-q22 duplications. Two genes, VWA1 and PYGO2, contained in the two duplications, respectively, are likely to be the candidate genes for the phenotype of our patient.

• Authors: Y Zhang, Y Dai, Y Liu, J Ren
• Journal: Clinical genetics (Clin Genet) Vol. 78 Issue 6 Pg. 570-4 (Dec 2010) ISSN: 1399-0004 [Electronic] Denmark
• PMID: 20412112 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © 2010 John Wiley & Sons A/S.

Topics

• Abnormalities, Multiple (genetics)
• Comparative Genomic Hybridization
• Congenital Abnormalities (genetics)
• Congenital Microtia
• Craniofacial Dysostosis (genetics)
• Ear (abnormalities)
• Humans
• Infant, Newborn
• Limb Deformities, Congenital (genetics)
• Mandibulofacial Dysostosis (genetics)
• Syndrome