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Biomedical subjects

M Pinheiro

Publications and source records attributed to M Pinheiro.

42 records · Page 3Linked to original sources
PubMed1979

Christ-Siemens-Touraine syndrome--a clinical and genetic analysis of a large Brazilian kindred: II. Affected males.

We describe 13 males with Christ-Siemens-Touraine syndrome from one family. History and examination were supplemented by three sweat tests and dermatolglyphic analysis. Some of the patients had two uncommon findings (onychodystrophy and excessive lacrimation), and five had an "incomplete" form of the syndrome. Four signs (distal phalanges of fingers and toes radially and tibially deviated, respectively; facial hypochromic spots; large occipitofrontal circumference) seem to be described for the first time. The segregation proportion in the sibships with at least an affected male was found to be normal (1:1) in 44 series of data (43 from the literature), where a high ascertainment bias was present (155 affected and 68 normal males).

Adolescent↗
PubMedDate not supplied

[Ectodermal dysplasias--a general view].

Ectodermal dysplasias comprise a group of about 150 diseases, in general of a genetic nature. The most common form--Christ, Siemens, Touraine's Syndrome--is characterized by high intermittent fever in infancy and, when the patient is not properly cared for, the hyperthermia may cause death. In Brazil, there are at least 400 men severely affected by this syndrome (such a number is not higher because approximately 50% of the patients die early) and 1,000 women. In women, however, the syndrome occurs in a mild form, and many go unnoticed. Disinformation renders difficult the diagnosis and treatment of patients. This was the reason that led us to create, in 1982, the Center for the Study of Ectodermal Dysplasias, the only specialized institution of such diseases in the world.

Child↗