Saeed Muhammad, Shair Qamar Ali, Saleem Shah Masabat
Department of Paediatric Neurology, The Children Hospital, Taif, Saudi Arabia.
J Coll Physicians Surg Pak. 2011 Apr;21(4):252-3.
Frank-Ter Haar Syndrome (FTHS) is a rare hereditary inherited disorder with many abnormalities. The main clinical features are brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full cheeks, small chin, congenital heart defects, kyphoscoliosis, skeletal dysplasia, developmental delay, coccygeal skin folds and flexion deformity of the fingers. This case report describes Frank-Ter Haar syndrome in a 4 months old girl suffering from club foot, dysmorphism, prominent coccyx with skin fold, atrial septal defect, patent ductus asteriosus and megalocornea.
弗兰克 - 特哈尔综合征（FTHS）是一种罕见的遗传性疾病，有许多异常表现。主要临床特征包括短头畸形、囟门宽大、前额突出、眼距增宽、眼睛突出、有或无青光眼的大角膜、脸颊丰满、小下巴、先天性心脏缺陷、脊柱后凸侧弯、骨骼发育异常、发育迟缓、尾骨皮肤褶皱和手指屈曲畸形。本病例报告描述了一名4个月大患有马蹄内翻足、畸形、突出的尾骨伴皮肤褶皱、房间隔缺损、动脉导管未闭和大角膜的女孩的弗兰克 - 特哈尔综合征。
