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Biomedical subjects

N Freire-Maia

Publications and source records attributed to N Freire-Maia.

At least 37 records · Page 2Linked to original sources
PubMed1987

Autosomal dominant painful plantar callosities.

We describe large kindred with an autosomal dominant condition characterized by painful callosities that develop over the pressure points of the soles. These callosities are not congenital; they arise with upright ambulation.

Callosities↗
PubMed1987

Cleft lip/palate-oligodontia-syndactyly-hair alterations, a new syndrome: review of the conditions combining ectodermal dysplasia and cleft lip/palate.

We report on a noninbred girl with cleft lip and palate, complete absence of deciduous teeth, hypodontia of permanent teeth, hair alterations, hypertelorism, midface hypoplasia, abnormal EEG, syndactyly, and other findings. Her mother had minor anomalies which could represent the mild expression of a gene. A review on the conditions combining ectodermal dysplasia and cleft lip/palate is presented.

Abnormalities, Multiple↗
PubMed1984

Inbreeding effect on morbidity: I. Three analyses (one with cousin and sib controls) of two surveys among Brazilian whites and Negroes.

Data from two surveys performed in Brazil and involving 5,719 persons have been subdivided into three subsamples (one with cousin and sib controls). The totals led to estimates of B (abnormal equivalents per gamete) around 0.5, of A (the damage in a noninbred population) around 0.01-0.02, and of B/A from 14 to 77. No statistically significant difference was found between whites and nonwhites (mulattoes and Negroes). Inbreeding seems to disclose a predominantly mutational load.

Brazil↗
PubMed1984

Inbreeding effect on morbidity: II. Analyses of a third survey including and excluding infant-juvenile mortality among Brazilian whites and Negroes.

Data on a survey involving 10,458 liveborn white and nonwhite (mulattoes and Negroes) persons have been analyzed to estimate B, A, and B/A for anomalies in general, both including and excluding infant-juvenile mortality. In both instances and race groups, the approximate estimates of those parameters were 0.5, 4.5, and 12. Inbreeding seems to disclose a predominantly mutational load.

Adolescent↗
PubMed1984

Inbreeding effect on morbidity: III. A review of the world literature.

A review of the international literature on the inbreeding effect on morbidity is presented. For anomalies in general, the estimates of B vary from 0.2 to 5.8, of A from 0.01 to 0.23, and of B/A from 3 to 77. The respective modal estimates are roughly around 0.5, 0.03, and 20. A review of the estimates for specific anomalies also shows a wide range of values; from B = 0.0008, A = 68 X 10(-8), and B/A = 1,176 (for acheiropodia) to B = 2.9, A = 0.24, and B/A = 12 (for "incapacity for military service"). Some estimates of B/A lower than 12 have been obtained for congenital malformations in some countries. An overall analysis of the whole body of data suggests that most of the anomalies are either entirely or predominantly mutational in origin.

Brazil↗
PubMed1984

Effects of consanguineous marriages on morbidity and precocious mortality: genetic counseling.

The excess risks of morbidity and precocious mortality for the offspring of incestuous matings and of matings of uncles-nieces and aunts-nephews, first cousins, first cousins once removed, and second cousins have been estimated as 32%, 18%, 9%, 5%, and 2.5%, respectively. These estimates are based on the theory of Morton et al [1956], assuming a damage (genetic and nongenetic) of 20% for the offspring of nonconsanguineous couples and two "deleterious" equivalents per gamete. Other possibilities (a damage of 40%; 2.5 deleterious equivalents per gamete), a partition of the total risk into prenatal and postnatal events, and some aspects of the inbreeding theory are also presented. Comments intended for persons interested in counseling are provided.

Adolescent↗
PubMed1983

Trichoodontoonychial dysplasia--a new meso-ectodermal dysplasia.

We describe a hitherto apparently undescribed ectodermal dysplasia in four siblings. The condition combines severe hypotrichosis, hypoplasia of enamel leading to secondary anodontia, dystrophic nails, supernumerary nipples, nevus pigmentosus, bone deficiency of the fronto-parietal region, and other anomalies. This condition is probably due to an autosomal-recessive gene. ?

Adolescent↗
PubMed1983

AREDYLD: a syndrome combining an acrorenal field defect, ectodermal dysplasia, lipoatrophic diabetes, and other manifestations.

A daughter of second cousins is described as having lipoatrophic diabetes, unusual facial appearance, generalized hypotrichosis, two natal teeth with enamel dysplasia, eruption of four dysplastic deciduous teeth, absence of permanent dentition, low birth weight, short stature, lumbar scoliosis, renal alterations, aplasia of a breast and hypoplasia of the other, hypoplastic and hypopigmented areolae with diffuse limits, hyperostosis of the cranial vault, metacarpal hypoplasias, difficulty of grasping with the left hand, exertional dyspnea, absence of DIP extension and flexion creases, dermatoglyphic alterations, and other anomalies. Her sister, dead at 1 1/2 years, had had some manifestations of the condition; seven sibs are normal. It is more likely that the whole clinical picture represents a single syndrome rather than homozygosity of different autosomal-recessive genes.

Abnormalities, Multiple↗
PubMed1983

Dermoodontodysplasia: an eleven-member, four generation pedigree with an apparently hitherto undescribed pure ectodermal dysplasia.

A Caucasian family was verified to have 11 affected persons (7 women and 4 men) in four generations. A mild and variable clinical picture (dry, thin skin, dental involvement, and nail alteration) was verified in all the affected, with the exception of the propositus who has a more severe clinical picture, besides also having trichodysplasia. The segregation ratio (11 normal: 10 affected) verified in the offspring of the affected and other criteria permit the hypothesis of an autosomal dominant gene. This pure dysplasia was compared to 27 other conditions belonging to the tricho-odonto-onychial subgroup and proved to be different from all the others.

Adult↗
PubMed1982

The neurofaciodigitorenal (NFDR) syndrome.

We describe in two brothers a previously apparently unreported multiple congenital anomalies/mental retardation (MCA/MR) syndrome of high, prominent forehead, vertical groove on tip of nose, "cowlick," ear anomalies, acrorenal field defect (incipient unilateral triphalangism, broad halluces, with unilateral renal agenesis in one of the boys), megalencephaly associated with congenital hypotonia, severe mental retardation and highly abnormal EEG without seizures, intrauterine growth retardation and primordial shortness of stature in one brother. This is a Group III ("provisionally private") MCA/MR syndrome and presumed to be due to a Mendelian (either X-linked or autosomal recessive) mutation. We do not think these patients have the FG syndrome. The condition has been named the neurofaciodigitorenal (NFDR) syndrome.

Abnormalities, Multiple↗