Biomedical subjects
Publications and source records attributed to M Pinheiro.
A mother and two children with trichodysplasia, hypodontia, onychodysplasia (not present in the mother), mild skin alterations, bilateral inward deflection of the 4th toes, and other findings are described. This is an ectodermal dysplasia of the tricho-odonto-onychial subgroup probably due to an autosomal dominant gene.
We report on two Brazilian sisters who have a probably autosomal recessive ectodermal dysplasia of trichodysplasia, dental anomalies, onychodystrophy, skin alterations, and other findings. This appears to be the first full report of this condition for which we propose the name odontoonychodysplasia with alopecia.
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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. ?
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.
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.
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.
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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.
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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.
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.