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JCPSP-Journal of the College of Physicians and Surgeons Pakistan. 2011; 21 (4): 252-253
em Inglês | IMEMR | ID: emr-110175

RESUMO

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


Assuntos
Humanos , Feminino , Cardiopatias Congênitas , Osteocondrodisplasias/congênito , Anormalidades Craniofaciais , Anormalidades Craniofaciais/cirurgia , Permeabilidade do Canal Arterial , Glaucoma de Ângulo Fechado/cirurgia
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