Frank-Ter Haar Syndrome
JCPSP-Journal of the College of Physicians and Surgeons Pakistan. 2011; 21 (4): 252-253
in English
| 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
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Index:
IMEMR (Eastern Mediterranean)
Main subject:
Osteochondrodysplasias
/
Glaucoma, Angle-Closure
/
Craniofacial Abnormalities
/
Ductus Arteriosus, Patent
/
Heart Defects, Congenital
Type of study:
Case report
Limits:
Female
/
Humans
Language:
English
Journal:
J. Coll. Physicians Surg. Pak.
Year:
2011
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