Wieczorek, Dagmar and Shaw-Smith, Charles and Kohlhase, Juergen and Schmitt, Wolfgang and Buiting, Karin and Coffey, Alison and Howard, Eleanor and Hehr, Ute and Gillessen-Kaesbach, Gabriele (2007) Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation - New MCA/MR syndrome in two affected sibs and a mildly affected mother? AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 143A (11). pp. 1135-1142. ISSN 1552-4825,
Full text not available from this repository. (Request a copy)Abstract
The previously undescribed combination of esophageal atresia, hypoplasia of the zygomatic complex, microcephaly, cup-shaped cars, congenital heart defect, and mental retardation was diagnosed in two siblings of different sexes, with the brother being more severely affected. The mother presented with zygomatic arch hypoplasia of the right side only. We discuss major differential diagnoses: Goldenhar, Feingold, CHARGE, and Treacher Collins syndromes show a few overlapping clinical features, but these diagnoses are unlikely as the clinical findings are unusual for Goldenhar syndrome and mutational screening of the MYCN, the CHD 7, and the TCOF1 genes did not reveal any abnormalities. Autosomal recessive oto-facial syndrome, hypomandibular faciocranial dysostosis, and Ozkan syndromes were clinically excluded. A microdeletion 22q11.2 was excluded by FISH analysis, a microdeletion 2p23-p24 by microsatellite analyses, a subtelomeric chromosomal aberration by MLPA, and a small genomic deletion/duplication by CGH array. As X-inactivation studies did not show skewed X-inactivation in the mother, we consider X-chromosomal recessive inheritance of this condition less likely. We discuss autosomal dominant inheritance with variable expressivity or mosaicism in the mother as the likely genetic mechanism in this new multiple congenital anomaly/mental retardation (MCA/MR) syndrome. (C) 2007 Wiley-Liss, Inc.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | FEINGOLD-SYNDROME; MUTATIONS; SPECTRUM; esophageal atresia; aplastic/hypoplastic zygomatic arches; cup-shaped ears; microcephaly; ASD; VSD; mental retardation |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Humangenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 02 Dec 2020 14:37 |
| Last Modified: | 02 Dec 2020 14:37 |
| URI: | https://pred.uni-regensburg.de/id/eprint/32627 |
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