A clinical study of 31 individuals with midline facial defects with hypertelorism and a guideline for follow-up.
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.
Gil-da-Silva-Lopes
Vera Lúcia
VL
Departamento de Genética Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP, Brasil. vlopes@fcm.unicamp.br
Maciel-Guerra
Andréa Trevas
AT
D000293:Adolescent; D000328:Adult; D002526:Cerebellar Diseases / Q000150:complications* / Q000175:diagnosis; D002531:Cerebellum / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000150:complications*; D019066:Facies; D005260:Female; D005500:Follow-Up Studies; D005624:Frontal Bone / Q000002:abnormalities; D006801:Humans; D006972:Hypertelorism / Q000150:complications; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009460:Neurologic Examination; D014057:Tomography, X-Ray Computed