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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?
Author(s) -
Wieczorek Dagmar,
ShawSmith Charles,
Kohlhase Jürgen,
Schmitt Wolfgang,
Buiting Karin,
Coffey Alison,
Howard Eleanor,
Hehr Ute,
GillessenKaesbach Gabriele
Publication year - 2007
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31752
Subject(s) - microcephaly , hypoplasia , multiplex ligation dependent probe amplification , goldenhar syndrome , atresia , charge syndrome , medicine , microdeletion syndrome , genetics , treacher collins syndrome , omim : online mendelian inheritance in man , hemifacial microsomia , pediatrics , anatomy , biology , craniofacial , chromosome , gene , exon , phenotype
The previously undescribed combination of esophageal atresia, hypoplasia of the zygomatic complex, microcephaly, cup‐shaped ears, 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 CHD7 , 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. © 2007 Wiley‐Liss, Inc.