Frank-ter Haar syndrome with unusual clinical features

DÜNDAR M., Saatci C., Tasdemir S., Akcakus M., ÇAĞLAYAN A. O., ÖZKUL Y.

EUROPEAN JOURNAL OF MEDICAL GENETICS, vol.52, no.4, pp.247-249, 2009 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 52 Issue: 4
  • Publication Date: 2009
  • Doi Number: 10.1016/j.ejmg.2009.03.005
  • Journal Name: EUROPEAN JOURNAL OF MEDICAL GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.247-249
  • Keywords: Frank-ter Haar syndrome, Hypertelorism, Atrial septal defect, Double-outlet right ventricle, Skeletal dysplasia, Adducted thumb, MELNICK-NEEDLES SYNDROME, CONGENITAL GLAUCOMA, DELINEATION, REAPPRAISAL, ANOMALIES, SIBLINGS
  • Dokuz Eylül University Affiliated: No

Abstract

Frank-ter Haar syndrome first recognized by Frank et al. [Y. Frank, M. Ziprkowski, A. Romano, R. Stein, M.B. Katznelson, B. Cohen, R.M. Goodman, Megalocomea associated with multiple skeletal anomalies: a new genetic syndrome?, J. Genet. Hum. 21 (1973) 67-72.] and subsequently confirmed by ter Haar et al. [B. Ter Haar, B. Hamel, J. Hendriks, J. de Jager, Melnick-Needles syndrome: indication for an autosomal recessive form, Am. J. Med. Genet. 13 (1982) 469-477.]. The main clinical features of the syndrome are brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macro cornea with or without glaucoma, full cheeks, small chin, bowing of the long bones, and flexion deformity of the fingers [S.M. Maas, H. Kayserili, J. Lam, M.Y. Apak, R.C. Hennekam, Further delineation of Frank-ter Haar syndrome, Am. J. Med. Genet. 131 (2004) 127-133.]. We report a child with Frank-ter Haar syndrome presenting unusual clinical features. Hypopigmented areas in hair, bilateral adducted thumb, bilateral contractures in elbows and pelvic limb, atrial septal defect have not been described previously in the literature. Our patient also had double-outlet right ventricle. (C) 2009 Elsevier Masson SAS. All rights reserved.