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  • Title: Trisomy 7 mosaicism and manifestations of Goldenhar syndrome with unilateral radial hypoplasia.
    Author: Hodes ME, Gleiser S, DeRosa GP, Yune HY, Girod DA, Weaver DD, Palmer CG.
    Journal: J Craniofac Genet Dev Biol; 1981; 1(1):49-55. PubMed ID: 7341641.
    Abstract:
    We describe a girl born to a mother who took birth control pills and antihistamines during the first trimester of pregnancy. Congenital abnormalities included plagiocephaly, abnormalities of left ear, facial asymmetry, abnormalities of head hair pattern, cleft lip and palate, bifid tongue, left torticollis, hemivertebrae, left radial hypoplasia and absent thumb, left inguinal hernia, patient ductus arteriosus, narrowing of the thoracic aorta, and hypoplastic right pulmonary artery. The karyotype obtained from peripheral lymphocytes and from fibroblasts from the left side of the body was 46XX whereas fibroblasts from the right side revealed 46XX/47XX+7 mosaicism. The case is described of a child born in October 1975 by normal vaginal delivery to a 27-year old white woman who had taken Ortho Novum for about 6 weeks at the beginning of pregnancy and the antihistamine preparation Singlet (phenylephrine, chlorpheniramine, and acetaminophen) continuously during the pregnancy. The baby was born post-maturely and had peeling skin and long nails. Birth weight was 3.26 kg. Congenital abnormalities included plagiocephaly, abnormalities of left ear, facial asymmetry, abnormalities of head hair pattern, cleft lip and palate, bifid tongue, left torticollis, hemivertebrae, left radial hypoplasia and absent thumb, left inguinal hernia, patent ductus arteriosus, narrowing of the thoracic aorta, and hypoplastic right pulmonary artery. The karyotype obtained from peripheral lymphocytes and from fibroblasts from the left side of the body was 46XX, whereas fibroblasts from the right side revealed 46XX/47XX+7 mosaicism. The child has many of the features of Goldenhar syndrome (oculoauriculovertebral dysplasia) but lacks both dermoids of the eyes and colobomata of the upper eyelid, and has in addition unilateral radial hypoplasia, severe cardiac malformation, and mosaicism for trisomy 7. The relationship of the mosaicism for trisomy 7 and the clinical findings remains obscure, as does the relationship of the medications taken by the mother to the malformations.
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