TY - JOUR
T1 - Further delineation of Frank-ter Haar syndrome
AU - Maas, Saskia M.
AU - Kayserili, Hulya
AU - Lam, Jan
AU - Apak, Memnune Y.
AU - Hennekam, Raoul C. M.
PY - 2004
Y1 - 2004
N2 - 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. (C) 2004 Wiley-Liss, Inc
AB - 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. (C) 2004 Wiley-Liss, Inc
U2 - https://doi.org/10.1002/ajmg.a.30244
DO - https://doi.org/10.1002/ajmg.a.30244
M3 - Article
C2 - 15523657
SN - 1552-4825
VL - 131A
SP - 127
EP - 133
JO - American journal of medical genetics. Part A
JF - American journal of medical genetics. Part A
IS - 2
ER -