A case of otocephaly with anencephaly and meningomyelocele.
A case of otocephaly with anencephaly and meningomyelocele: Otocephaly is a rare lethal syndrome with microstomia, aglossia, agnathia, and synotia as major clinical features due to arrest in development of the first branchial arch. Some associated anomalies may be present as cyclopia, holoprosencephaly, cerebellar hypoplasia, situs inversus, and other visceral anomalies. We describe a case of fetus, spontaneously aborted in the 14th week of gestation with otocephaly complex (agnathia, synotia, microstomia) and associated anencephaly and meningomyelocele.
Department of Genetics, Dr. Sami Ulus Maternity and Children's Hospital, Ankara, Turkey. tulaytos@hotmail.com
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D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000022:Abortion, Spontaneous / Q000473:pathology*; D000328:Adult; D000757:Anencephaly / Q000235:genetics* / Q000473:pathology; D001934:Branchial Region / Q000002:abnormalities* / Q000473:pathology; D003241:Consanguinity; D004431:Ear, External / Q000002:abnormalities* / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D008591:Meningomyelocele / Q000235:genetics* / Q000473:pathology; D009056:Mouth Abnormalities / Q000235:genetics* / Q000473:pathology; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D014421:Turkey