Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome.

Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome.

MedLine Citation:	PMID: 19334086 Owner: NLM Status: MEDLINE
Abstract/OtherAbstract:	Treacher Collins syndrome (TCS, OMIM 154500) is a well-defined mandibulofacial dysostosis characterized by symmetric facial anomalies consisting of malar hypoplasia, coloboma of the lower eyelid, dysplastic ears, micrognathia, cleft palate and deafness. Other mandibulofacial dysostoses (MDs) such as Toriello (OMIM 301950), Bauru (OMIM 604830), Hedera-Toriello-Petty (OMIM 608257), and Guion-Almeida (OMIM 610536) syndromes are less well characterized and much rarer. Here we describe three unrelated patients showing clinical features overlapping with TCS, but who in addition have developmental delay, microcephaly and a distinct facial gestalt. Because of the distinct ear anomalies and the hearing loss a HOXA2 mutation was taken into account. CHARGE syndrome was discussed because of ear anomalies, choanal atresia, and developmental delay in our patients. But mutational analyses including sequencing of the TCOF1, the HOXA2, and the CHD7 genes, deletion screening of the TCOF1 gene as well as genomewide array analyses revealed normal results. We suggest that these three patients have a new type of mandibulofacial dysostosis. As all three cases are sporadic and both sexes are affected the pattern of inheritance might be autosomal dominant or autosomal recessive. Identification of additional patients will allow to further delineate the phenotype, to assign the inheritance pattern and to identify the molecular basis.

Authors:	Dagmar Wieczorek; Blanca Gener; Ma Jesús Martínez González; Saskia Seland; Sven Fischer; Ute Hehr; Alma Kuechler; Lies H Hoefsloot; Nicole de Leeuw; Gabriele Gillessen-Kaesbach; Dietmar R Lohmann
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Publication Detail:	Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Journal Detail:	Title: American journal of medical genetics. Part A Volume: 149A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2009 May
Date Detail:	Created Date: 2009-05-04 Completed Date: 2009-06-18 Revised Date: -
Medline Journal Info:	Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States
Other Details:	Languages: eng Pagination: 837-43 Citation Subset: IM
Affiliation:	Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany. dagmar.wieczorek@uni-due.de
Data Bank Information
Bank Name/Acc. No.:	OMIM/154500; 301950; 604830; 608257; 610536
Export Citation:	APA/MLA Format Download EndNote Download BibTex
MeSH Terms
Descriptor/Qualifier:	Choanal Atresia / diagnosis, genetics DNA Mutational Analysis Developmental Disabilities / diagnosis, genetics Female Genome-Wide Association Study Humans Infant Male Mandibulofacial Dysostosis / diagnosis, genetics Microcephaly / diagnosis, genetics Syndrome

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