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PubMed1996

[Autosomal chromosomes and anomalies of the oromaxillofacial area].

The study deals with genetic diseases due to anomalies in the number and structure of autosomal chromosomes associated with oro-facial malformations. Pertinent literature from 1980 and clinical cases for each defect were analyzed. By comparing clinical signs and symptoms with chromosome abnormalities it was possible to build an analytical diagram showing the prevalence of malformation exhibited by each anatomical oro-facial region (cranial, labial, palatal, nasal, ocular, dental, lingual region). A very high prevalence of malformation was assessed for lip-and-palate regions (78%). These region often shows "micro-signs" of cleft lip and/or palate (deep palatal vault, maxillary hypoplasia, congenitally missing upper central incisors) which may indicate the presence of a mildly expressed chromosome abnormality. The whole sample of autosomal chromosome abnormalities induce anomalies in structures lying along body and face mid-line. The phenotypic expression of such anomalies may be defective (cleft lip and/or palate), or excessive as well (excessive thickness of the lingual frenum, broadening of the nasal bridge).

Chromosome Aberrations↗
PubMed1975

Cowden disease.

Cowden disease represents an unusual, but unique syndrome which can be recognized most consistently by the development of characteristic verrucous, keratotic, papular, and nodular lesions about facial orifices, on the oral mucosa, and over the dorsal surfaces of the forearms and hands. The cause of these diverse hyperplastic changes is not known. Recognition of these lesions as signs of more extensive disease should alert the physician to examine the thyroid gland, breasts, female reproductive tract, GI tract, and skeleton for evidence of the associated changes we have enumerated. Because of the tendency for lesions of the thyroid, breast, and intestines to undergo malignant change, these patients require close observation and evaluation.

Abnormalities, Multiple↗