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Biomedical subjects

M Robinow

Publications and source records attributed to M Robinow.

At least 55 records · Page 3Linked to original sources
PubMed1979

Autosomal dominant atresia of the auditory canal and conductive deafness.

We report autosomal dominant atresia and/or stenosis of the external auditory canal with or without conductive deafness. In the family described here the anomaly had occurred in 12 individuals in five generations. Penetrance was very high, expressivity quite variable. The clinical, audiometric, radiographic, and operative findings in three patients (grandfather, father, and son) are presented. This condition has been reported only once previously.

Adult↗
PubMed1978

Systemic membrane defect in the proximal muscular dystrophies.

We studied lymphocyte capping in 61 patients with Duchenne, Becker, limb-girdle, facioscapulohumeral and congenital muscular dystrophies. All showed a markedly diminished percentage of capped cells when compared with 86 normal controls, providing support for previous evidence that an alteration in membrane fluidity may be a common pathogenic feature in several genetically distinct forms of proximal muscular dystrophy. Heterozygous carriers of Duchenne muscular dystrophy showed diminished capping that was indistinguishable from that of afflicted males and was often present even when serum enzyme levels were normal. Studies in 25 families with 16 suspected sporadic cases indicated that no more than four out of 30 afflicted males may represent new mutations. These findings imply that most cases of Duchenne dystrophy might be prevented by a population screening program for carrier females combined with prenatal detection of afflicted males.

Adolescent↗
PubMed1978

Hereditary sclerosing poikiloderma.

Three persons with hereditary sclerosing poikiloderma were studied to find any clue to explain the mechanism involved in producing the cutaneous lesions which are so striking clinically and also evident histologically. Investigational studies included a blood chemistry screen, chromosome analyses, and skin biopsies evaluated by routine stains as well as by electron microscopy and direct immunofluorescence. No mechanism for the production of the clinical and histological changes in the dominantly inherited disorder was found.

Adolescent↗
PubMed1978

Aglossia-adactylia.

Aglossia-adactylia is part of a family of malformation syndromes in which asymmetric reduction defects of the limbs are associated with oromandibular anomalies. The clinical and radiologic features of six cases are presented. Certain clinical observations, the results of animal studies by other authors, and embryologic considerations suggest a vascular pathogenesis.

Abnormalities, Multiple↗
PubMed1977

The Lenz-Majewski hyperostotic dwarfism. A syndrome of multiple congenital anomalies, mental retardation, and progressive skeletal sclerosis.

A distinct syndrome is delineated on the basis of two previously reported and one newly described case. The syndrome combines multiple congenital anomalies with a progressive skeletal dysplasia-dysostosis, The gradual evolution of the skeletal disorder is demonstrated in the present patient. It will now be possible to diagnose this syndrome at birth.

Abnormalities, Multiple↗
PubMed1975

The Weissenbacher-Zweymuller syndrome of micrognathia and rhizomelic chondrodysplasia at birth with subsequent normal growth.

Two patients are reported with the clinical and roentgenographic findings of the Weissenbacher-Zweymuller syndrome. The features are neonatal micrognathia (Pierre Robin syndrome), rhizomelic chondrodysplasia with dumbbell shaped femur and humeri. The bone changes tend to regress and there is normal growth on serial studies. A third case seemed at birth to show similar roentgenographic changes but was dwarfed; serial observations revealed him to be a case of the Kniest syndrome with micrognathia as an added feature. The term "micrognathic dwarfism" suggested by Maroteaux is probably best aboided since it will inevitably include a variety of conditions, only some of which are associated with dwarfism.

Diagnosis, Differential↗
PubMed1975

Acrocephalopolysyndactyly, type Noack, in a large kindred.

ACS was highly variable in this family. At least one affected member could have passed as uninvolved. Others could have been assigned to ACS types III, IV or V. The current classification is probably sound, but great caution is needed to assign individual cases of ACS to any group other than ACS types I or II or the Carpenter syndrome. The great variability of ACS has obvious implications for genetic counseling.

Acrocephalosyndactylia↗
PubMed1975

Mucolipidosis III (pseudo-Hurler polydystrophy): Clinical and laboratory studies in a series of 12 patients.

Mucolipidosis III (pseudo-Hurler polydystrophy) is an autosomal recessively inherited Hurler-like disorder without mucopolysacchariduria. Previous reports have noted a constellation of laboratory features similar to that described for mucolipidosis II (I-cell disease). Studies were carried out on a series of 15 patients. Twelve were found to have changes in serum and cultured fibroblasts which consisted of marked elevations of several acid hydrolases in serum with low levels of the same enzymes in cultured cells, a marked increase in dense cytoplasmic inclusions and abnormal radioactive sulfate kinetics. The clinical features of these 12 patients comprise a phenotypic entity. Despite clinical similarity, the 3 remaining patients were not felt to represent mucolipidosis III. The basic defect in mucolipidosis III remains unknown, but is suggested that the defect is similar to that of mucolipidosis II, from which it must be distinguished clinically.

Adolescent↗