Frank-Ter Haar Syndrome
JCPSP-Journal of the College of Physicians and Surgeons Pakistan. 2011; 21 (4): 252-253
em Inglês
| IMEMR
| ID: emr-110175
ABSTRACT
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
Buscar no Google
Índice:
IMEMR (Mediterrâneo Oriental)
Assunto principal:
Osteocondrodisplasias
/
Glaucoma de Ângulo Fechado
/
Anormalidades Craniofaciais
/
Permeabilidade do Canal Arterial
/
Cardiopatias Congênitas
Tipo de estudo:
Relato de Casos
Limite:
Feminino
/
Humanos
Idioma:
Inglês
Revista:
J. Coll. Physicians Surg. Pak.
Ano de publicação:
2011
Similares
MEDLINE
...
LILACS
LIS