Frank-Ter Haar Syndrome, Report of a Case with a Novel Mutation from Iran

Abstract

Frank-ter Haar syndrome is a genetic disease that is transmitted by autosomal recessive pattern with characteristic features such as megalocornea or glaucoma, a developmental delay and multiple congenital anomalies. It was first recognized as a separate entity by Frank, et al. [1] and subsequently confirmed by ter Haar, et al. [2]. The main characteristics are brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, megalocornea 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 an Iranian 6-year-old boy with this syndrome which is confirmed by a homozygous pathogenic mutation in the SH3PXD2B gene.