Document Detail


Frank-Ter Haar Syndrome.
MedLine Citation:
PMID:  21453629     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Muhammad Saeed; Qamar Ali Shair; Shah Masabat Saleem
Related Documents :
20816579 - Hereditary genodermatoses with cancer predisposition.
23890619 - Postmortem molecular analysis of kcnq1, kcnh2, kcne1 and kcne2 genes in sudden unexplai...
21189439 - Tubulointerstitial nephritis and uveitis: report of a rare syndrome.
10590899 - Paraneoplastic neuropathy.
23905889 - Genetic biomarkers in brugada syndrome.
21163169 - Behçet syndrome.
23418529 - Metabolic syndrome among emirati adolescents: a school-based study.
19149529 - Atypical neuroleptic malignant syndrome or serotonin toxicity associated with atypical ...
1033609 - Postpartum haemolytic-uraemic syndrome.
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of the College of Physicians and Surgeons--Pakistan : JCPSP     Volume:  21     ISSN:  1022-386X     ISO Abbreviation:  J Coll Physicians Surg Pak     Publication Date:  2011 Apr 
Date Detail:
Created Date:  2011-04-01     Completed Date:  2011-06-16     Revised Date:  2011-12-06    
Medline Journal Info:
Nlm Unique ID:  9606447     Medline TA:  J Coll Physicians Surg Pak     Country:  Pakistan    
Other Details:
Languages:  eng     Pagination:  252-3     Citation Subset:  IM    
Affiliation:
Department of Paediatric Neurology, The Children Hospital, Taif, Saudi Arabia. muhammad964@hotmail.com
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Consanguinity
Craniofacial Abnormalities* / diagnosis,  surgery
Developmental Disabilities / diagnosis,  surgery
Ductus Arteriosus, Patent / surgery
Female
Glaucoma, Angle-Closure / surgery
Heart Defects, Congenital* / diagnosis,  surgery
Humans
Infant
Osteochondrodysplasias* / congenital,  diagnosis,  surgery

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Nail mine in stomach.
Next Document:  Rehabilitation of a large maxillo-facial defect using acrylic resin prosthesis.