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Biomedical subjects

N Freire-Maia

Publications and source records attributed to N Freire-Maia.

At least 55 records · Page 3Linked to original sources
PubMed1981

An autosomal recessive ectodermal dysplasia syndrome of hypotrichosis, onychodysplasia, hyperkeratosis, kyphoscoliosis, catartact, and other manifestations.

We describe a 20-year-old woman with generalized trichodysplasia, dry skin with scaling, hyperchromic spots on limbs, hyperkeratosis (particularly intense on soles), dermatoglyphic abnormalities, onychodysplasia, shortness of stature, kyphoscoliosis, unusual facial appearance, minor malformations of limbs, bilateral nuclear cataract, narrow palpebral fissures, entropion, trichiasis, etc. The condition is probably due to an autosomal recessive gene. The patient is the only affected member in a sibship of four whose parents are second cousins.

Abnormalities, Multiple↗
PubMed1981

A previously undescribed condition: tricho-odonto-onycho-dermal syndrome. A review of the tricho-odonto-onychial subgroup of ectodermal dysplasias.

An apparently hitherto undescribed ectodermal dysplasia/malformation syndrome is presented. The patient, the last son in an outbred sibship of four males, presents scalp hypotrichosis, aplasia cutis congenita of the scalp, dental abnormalities, onychodyplasia, dry skin with hypochromic and atrophic (poikiloderma-like) spots with vicarious (marginal) hyperchromia, unusual facies, asymmetrical skull, absent right nipple, irregular areolae, palmar keratosis, dermatoglyphic alterations, syndactyly, clinodactyly, phalangeal aplasias and hypoplasias, right leukoma, abnormal EEG, and other findings. The aetiology is unknown. A review of seventeen ectodermal dysplasias is presented for different diagnosis.

Abnormalities, Multiple↗
PubMed1980

Inbreeding in a Brazilian general hospital.

A group of 925 adult in-patients of a Brazilian general hospital was matched by race (subdivided in five groups) and age with a group of 925 of their visitors, who were taken as controls. Illiteracy increases from Whites to Blacks and is significantly more prevalent among the patients than among their respective controls. Inbreeding, on the contrary, increases from Blacks to Whites. White patients showed a significantly higher rate of inbreeding than their corresponding controls. The difference is also significant for the fraction Whites plus Light Mulattoes, but not for the other race subgroups. As regards the total, the significance is present only in a one-tailed distribution. It is concluded that the inbreeding load (if any) acting on the total of the patients is negligible; it seems significantly different from 0 only among Whites. No inbreeding effect could be verified, however, on any particular condition among the Whites. Estimates of the number of morbid equivalents per gamete (morbons) revealed values which are both significantly (among Whites and Whites plus Light Mulattoes) and non-significantly (among the other racial subgroups) different from zero. These estimates reflect the situation in the sample which has been artificially organized to contain 50% of patients.

Adult↗
PubMed1980

Recessive aplasia cutis congenita of the limbs.

Six inbred persons (five males and one female) in three generations of a single family are reported as having simple congenital absence of skin on the upper or lower limbs or both. The data suggest an autosomal recessive pattern of inheritance for this apparently new clinical entity.

Adult↗
PubMed1980

Mohr-Wriedt (A2) brachydactyly: analysis of a large Brazilian kindred.

A large Brazilian kindred of German origin with 117 individuals with the A2 (Mohr-Wriedt) bradydactyly is presented. Some drawings based on radiographs and revealing the high phenotypic spectrum of the malformation are presented. Our corrected data suggest the presence of a segregation distortion in favor of the affected among the daughters of affected mothers (45:25; x12 = 5.71). This apparent anomalous segregation is not significant in the other comparisons made, although the p values corresponding to the x12 for two of them (78:56 and 109:83) are near 5%. Other 'similar' (although possibly different on the genetic aspect) A2 cases in the literature do not present any evidence of anomalous segregation. The dermatoglyphic disturbances verified in the affected index fingers seem to be mere allophenes of the basic dysmorphogenetic process which leads to the (autophenic) bone malformations. There is no birth order effect on the affected. Fertility seems to be higher among them than among their normal sibs.

Brazil↗
PubMed1979

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

A total of 27 women of a Brazilian kindred are described as having one or more signs of the Christ-Siemens-Touraine syndrome. The history and physical examination were supplemented by four sweat tests and dermatolglyphic analysis. It is suggested that this syndrome has two forms -- a major form (in males) and a minor one (in females). Two signs verified in some of our patients (mosaic patchy distribution of body hair and radial deviation of distal phalanges of index fingers) seem to be here described for the first time. A review of the literature shows a corrected sex ratio between 1 M: 1.21 F and 1 M: 2.38 F among affecteds. Since the manifestation rate of the gene among carriers was estimated at about 0.70, the actual sex ratio is expected to be not lower than 1 M: 1.40 F. Contrary to a general opinion, affected females outnumber affected males.

Adult↗