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Further delineation of Frank–ter Haar syndrome

2004; Wiley; Volume: 131A; Issue: 2 Linguagem: Inglês

10.1002/ajmg.a.30244

1552-4833

Saskia M. Maas, Hülya Kayserili, Jan Lam, Memnune Yüksel Apak, Raoul C. M. Hennekam,

Genetic Syndromes and Imprinting

Abstract The combination of the symptoms megalocornea, multiple skeletal anomalies, and developmental delay was first recognized as a separate entity by Frank et al. [ 1973 ] and subsequently confirmed by ter Haar et al. [ 1982 ]. The main characteristics are brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full cheeks, small chin, bowing of the long bones, and flexion deformity of the fingers. Protruding, simple ears, and prominent coccyx bone can be also regarded as important diagnostic signs. Inheritance most likely is autosomal recessive. Several manifestations such as progressive “coarsening” of the face, hirsutism, gallstones, lingual papillomatosis, and cardiac valve anomalies all point to a possible metabolic basis of the disorder. Here we describe four patients, including three sibs of Turkish descent, with this entity. © 2004 Wiley‐Liss, Inc.