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Biomedical subjects

N Freire-Maia

Publications and source records attributed to N Freire-Maia.

At least 73 records · Page 4Linked 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↗
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↗
PubMed1975

A syndrome of hypohidrotic ectodermal dysplasia with normal teeth, peculiar facies, pigmentary disturbances, psychomotor and growth retardation, bilateral nuclear cataract, and other signs.

This paper describes a 7-year-old girl with trichodysplasia, normal teeth, onychogryposis, hypohidrosis, psychomotor and growth retardation, dry and warm skin with follicular hyperkeratosis, pigmentary disturbances (hyper- and hypochromic spots), bilateral nuclear cataract, dermatoglyphic anomalies, and other signs. This condition is considered a new form of ectodermal dysplasia.

Cataract↗
PubMed1975

A heterozygot expression of a 'recessive' gene?

An individual affected with severe bone reductions of the upper limbs, apparently due to an autosomal recessive gene, had eight normal children and then a child with absence of the right thumb and the correspondent metacarpal. This is supposed to be the result of a mild expression of the postulated gene in heterozygous state.

Arm↗
PubMed1975

Genetics of acheiropodia (the handless and footless families of Brazil). IX. Genetic counseling.

Acheiropodia offers no special problem of a counseling nature. The genetic risk can be easily estimated since the anomaly is due to a rare autosomal recessive gene with complete penetrance and little variation in expression. However, considering that acheiropod individuals have a tremendous handicap (they are born without both hands and feet), it is remarkable how they overcome this difficulty and lead an almost 'normal' life. Several examples are given in this paper. The 'philosophy' of genetic counseling is briefly discussed; emphasis is placed upon the necessity for the geneticist to present the good perspectives, while preparing the consultand for the worst. Even in this last possibility, however, not everything is necessarily lost as the example of the acheiropods attests.

Abnormalities, Multiple↗