Frank-ter Haar syndrome with unusual clinical features.
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, Megalocornea 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.
Dundar
Munis
M
Erciyes University, Medical Faculty, Department of Medical Genetics, Talas Cad., 38039 Kayseri, Turkey. dundar@erciyes.edu.tr
Saatci
Cetin
C
Tasdemir
Sener
S
Akcakus
Mustafa
M
Caglayan
Ahmet Okay
AO
Ozkul
Yusuf
Y
D000015:Abnormalities, Multiple; D019465:Craniofacial Abnormalities / Q000235:genetics*; D017809:Fatal Outcome; D005808:Genes, Recessive; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D006972:Hypertelorism / Q000235:genetics*; D007223:Infant; D008297:Male; D010009:Osteochondrodysplasias / Q000235:genetics*; D013577:Syndrome