Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/197395
Type: Artigo de periódico
Title: A Clinical Study Of 31 Individuals With Midline Facial Defects With Hypertelorism And A Guideline For Follow-up.
Author: Gil-da-Silva-Lopes, Vera Lúcia
Maciel-Guerra, Andréa Trevas
Abstract: In order to contribute to clinical delineation of midline facial defects with hypertelorism (MFDH) and to etiologic diagnosis of the isolated form, 31 patients with MFDH unaffected by known syndromic associations were evaluated. Group A included patients personally examined by the authors, while Group B included those previously evaluated by other geneticists. Among the 14 patients from Group A, there were 7 with distinct pictures of multiple congenital anomalies. In Group B, 5 of the 17 patients also exhibited a distinct pattern of defects. Among isolated MFDH, there was association with anomalies of the skull and facial bones (13/14), otorhinologic (11/16), central nervous system (9/16), and ocular (6/7), and audiologic (3/16); 1/3 of the cases had a relevant gestational intercurrences. Isolated FNM may have involvement of environmental components in some cases; the possibility of a syndromic picture should be extensive investigated. Follow-up of such patients must include the examinations herein performed.
Subject: Adolescent
Adult
Cerebellar Diseases
Cerebellum
Child
Child, Preschool
Craniofacial Abnormalities
Facies
Female
Follow-up Studies
Frontal Bone
Humans
Hypertelorism
Infant
Magnetic Resonance Imaging
Male
Neurologic Examination
Tomography, X-ray Computed
Rights: aberto
Identifier DOI: 
Address: http://www.ncbi.nlm.nih.gov/pubmed/17665003
Date Issue: 2007
Appears in Collections:Unicamp - Artigos e Outros Documentos

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