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Biomedical subjects

N Freire-Maia

Publications and source records attributed to N Freire-Maia.

At least 19 recordsLinked to original sources
PubMed1992

Autosomal recessive cleft lip/palate, ectodermal dysplasia, and minor acral anomalies: report of a Brazilian family.

We report on a Brazilian woman, born to consanguineous (first cousin) parents (F = 1/16) and presenting cleft lip/palate, ectodermal dysplasia, interdigital webbing, and other malformations. Parental consanguinity and possible recurrence in sibs suggest autosomal recessive inheritance. The nosologic aspects with the Martinez syndrome and with the Zlotogora-Ogur syndrome are discussed.

Abnormalities, Multiple↗
PubMed1992

Inbreeding effect on morbidity: IV. Further data in Brazilian populations.

The analysis of the data on 5677 children of 1063 couples from a fourth sample of consanguineous and nonconsanguineous marriages among whites and nonwhites living in the State of Minas Gerais, Brazil led to the following estimates: B (number of abnormal equivalents per gamete) around 0.5; A (morbidity in the non-inbred subsamples) 2-3 percent; B/A 13, 15, and 27 (this suggests that the morbidity disclosed by inbreeding may predominantly represent a mutational load); RR (relative risk) about 2 (this means that among the children of consanguineous marriages there is about double the frequency of abnormalities than in those with nonconsanguineous marriages); AR (attributable risk) for the whole sample about 7% (5% for nonwhites and 15% for whites). These last values show the amount that the frequency of abnormalities would decrease in the population if the risk factor (consanguineous marriages) would be eliminated. AR is higher in whites because the frequency of the risk factor is higher among whites.

Brazil↗
PubMed1992

Hair-nail dysplasia--a new pure autosomal dominant ectodermal dysplasia.

An apparently hitherto undescribed pure ectodermal dysplasia of the tricho-onychic subgroup is described. Its cause is an autosomal dominant gene with complete penetrance and variable expressivity. Differential diagnosis considered 18 conditions belonging to the same subgroup, as well as Clouston syndrome. This report increases the number of conditions of the tricho-onychic subgroup to 19, and the total number of ectodermal dysplasias to 155.

Diagnosis, Differential↗
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↗
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↗
PubMed1978

Genetics of acheiropodia ("The handless and footless families of Brazil"): X. Roentgenologic study.

The main radiologic findings from four unrelated cases and two sibs with acheiropodia are presented and discussed. On the basis of such analysis, a clinical and radiologic description of the anomaly is given. The presence of one or more fingers and of a small bone (Bohomoletz bone) in the upper stumps is discussed. These unusual findings in bone structure were assumed to be due to a variability in the expression of the acheiropodia gene. Radiologic studies of some of the acheiropods' normal parents failed to reveal even mild manifestations of the gene in the heterozygous state. No recognizable pattern was found in the dermal ridges on the end of the acheiropods' upper or lower stumps.

Abnormalities, Multiple↗
PubMed1978

Genetic investigations in a Northern Brazilian island. II. Random drift.

18 albinos were born on Lençóis island. Since 3 of them died and 5 emigrated, the prevalence of albinism is about 3% in the island. 2 inbred brothers with brachydactyly of the index fingers and 1 case of 'achondroplasia' were also found. The analysis of the population structure of the island suggests that its high frequency of albinism may have been produced by random drift. The index of isolation of its present population is roughly 17--27. Genealogical, clinical and histological data are presented and anslyzed. Natural selection is not acting against the albinism gene at a measurable rate. Cytogenetic investigations among albinos and normals did not reveal any difference as regards frequency of aneuploidy, association of acrocentrics and chromatid gaps. The role of random processes in evolution is mentioned and the possibility that they may be more important than it is sometimes assumed is stressed.

Achondroplasia↗
PubMed1977

An ectodermal dysplasia syndrome of alopecia, onychodysplasia, hypohidrosis, hyperkeratosis, deafness and other manifestations.

A girl is reported with a hitherto apparently undescribed ectodermal dysplasia syndrome. The main findings include: alopecia, onychodysplasia, hypohidrosis, sensorineural deafness, skin with a tan color and hyperkeratosis (involving also plams and soles), unusual facies (with slight auricle and nose abnormalities), pectus excavatum, severe hyperopia, EEG abnormalities, and retarded bone age. The patient also presents mongoloid palpebral slanting, narrow palpebral fissures, bilateral esotropia, photophobia and dermatoglyphics with extensive ridge dissociation. The etiology is unknown but presumed to be genetic, possibly due to the homozygous state of an autosomal recessive mutation.

Alopecia↗
PubMed1977

Nosologic groups. An overview.

A general analysis is made of the concept of nosologic groups. It is concluded that, even when 'artificial',they may prove to be useful research, didactic and differential diagnosis purposes. Nosologic groupings must, however, progress toward the finding of 'phenotypic communities' whose component syndromes share multiple foci of dysmorphogenetically intimate phenotypic overlap. The concepts of syndrome, anomalad, association, combination, dysplasia, phenotypic community and family of diseases are briefly analysed.

Abnormalities, Multiple↗
PubMed1976

Hypertrichosis lanuginosa in a mother and son.

Hypertrichosis lanuginosa (without gingival hyperplasia) is described in a mother and son; the latter also had photophobia, infantile genitalia, growth retardation, hypotension, low IQ and dental abnormalities (hyperdontia, permanence of deciduous and delayed eruption of permanent teeth). Both have normal dermatoglyphics. Some clinical findings are discussed. The presence of this syndrome in a mother and son supports an autosomal mode of inheritance (with variable expressivity). Hypertrichosis lanuginosa is a pure monomultidysplasia and may be classified with the tricho-odontic sub-group of the ectodermal dysplasias.

Abnormalities, Multiple↗