A clinical study of 31 individuals with midline facial defects with hypertelorism and a guideline for follow-up

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.

Oral findings in Midline Syndrome: A case report and literature review

“…A recent clinical study of thirty-one individuals with midline facial defects and hypertelorism found a strong association between anomalies of the skull and facial bones, related to a disturbance in the development of the frontonasal process, ear and larynx, and the central nervous system. No dental anomalies were reported in these patients (10). The frontonasal prominence is composed of the mesenchyme, derived from the cranial neural crest, surrounded by epithelia derived from the neuroectoderm of the forebrain and facial ectoderm.…”

“…The presence of dental anomalies has only rarely been mentioned in midline syndromes. In a recent clinical study by Gil-da-Silva-Lopes et al (10) of thirty-one individuals with midline facial defects, no reference was made to congenital dental anomalies. However, dental agenesis has been related to a large number of other malformation syndromes and congenital conditions.…”

“…The etiology has been related to both genetic and teratogenic factors (9). This group of congenital conditions also includes midline facial defects with hypertelorism, a group of rare, heterogenic craniofacial disorders characterized by the presence of a bifid nose (10). We present a case of midline syndrome showing phenotypical characteristics that do not coincide entirely with those described to date in the literature.…”

Central nervous system abnormalities on midline facial defects with hypertelorism detected by magnetic resonance image and computed tomography

“…In this study, 5 patients with lipoma of the corpus callosum and 1 with calcification of faux and interhemispheric lipoma w e re observed. Gil-da-Silva-Lopes and Maciel-Guerr a 3 detected lipoma of corpus callosum in (2/31) patients. Two of our patients had errors of migration detected by CT scan.…”

“…Gil-da-Silva-Lopes and M a c i e l -G u e rr a 3 , evaluating brain CT of 29 personal patients with MFDH, including isolated form and those with multiple congenital anomalies with unknown etiology, detected anterior cranium bifidum in 6 individuals and frontal osseous failure in 4.…”