Wieczorek, Dagmar and Gener, Blanca and Martinez Gonzalez, Ma Jesus and Seland, Saskia and Fischer, Sven and Hehr, Ute and Kuechler, Alma and Hoefsloot, Lies H. and de Leeuw, Nicole and Gillessen-Kaesbach, Gabriele and Lohmann, Dietmar R. (2009) Microcephaly, Microtia, Preauricular Tags, Choanal Atresia and Developmental Delay in Three Unrelated Patients: A Mandibulofacial Dysostosis Distinct From Treacher Collins Syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 149A (5). pp. 837-843. ISSN 1552-4825,
Full text not available from this repository. (Request a copy)Abstract
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 cars, 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 genies, 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. (c) 2009 Wiley-Liss, Inc.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | CHARGE-SYNDROME; MENTAL-RETARDATION; MUTATIONS; GENE; EXCLUSION; SPECTRUM; TRANSLOCATION; DIAGNOSIS; DELETION; REVEALS; mandibulo-facial dysostosis; microcephaly; developmental delay; microtia; choanal atresia |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Humangenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 16 Sep 2020 04:23 |
| Last Modified: | 16 Sep 2020 04:23 |
| URI: | https://pred.uni-regensburg.de/id/eprint/28989 |
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