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Biomedical subjects

M Robinow

Publications and source records attributed to M Robinow.

At least 37 records · Page 2Linked to original sources
PubMed1984

Distal 15q trisomy: phenotypic comparison of nine cases in an extended family.

Nine related individuals have been identified as being trisomic for the distal part of the long arm of chromosome 15 (15q23 to 15qter). The physical characteristics, especially the facial features, of these nine cases are similar and distinctive. These include: facial asymmetry, down-slanting palpebral fissures, ptosis, prominent nose, long philtrum, down-turned mouth, midline crease in the lower lip, puffy cheeks, and micrognathia. By comparing related individuals with the same translocation, the variability due to different breakpoints can be eliminated. Clinical similarities between unrelated individuals with similar duplicated 15q material, but differing second chromosomes, suggest that the phenotype is due to the extra distal 15q chromosomal material. We conclude that distal 15q trisomy produces a clinically recognizable syndrome.

Abnormalities, Multiple↗
PubMed1983

Skeletal lesions following meningococcemia and disseminated intravascular coagulation. A recognizable skeletal dystrophy.

Partial destruction of the right humeral and right femoral head were discovered in a 30-month-old girl, two years after her recovery from meningococcal septicemia and disseminated intravascular coagulation (DIC). Additional findings were symmetrical epiphyseal-metaphyseal lesions of the lower femora and upper and lower tibiae. The combined skeletal lesions seem to be characteristic sequelae of infantile meningococcemia complicated by DIC. Since this condition is no longer uniformly fatal, the characteristic skeletal dystrophy will be encountered more frequently and should be recognized by radiologists, pediatricians, and orthopedists. The features shared by our patient and the seven previously published cases are presented.

Bone Diseases↗
PubMed1983

The genetic status of mothers of isolated cases of Duchenne muscular dystrophy.

Classical genetic theory, based on assumed equal mutation rates in males and females, predicts that one-third of all cases of Duchenne muscular dystrophy (DMD) in a generation are born as new mutants to non-carrier mothers. Furthermore, less than half the mothers of apparently isolated cases appear to be carriers on the basis of raised serum creatine kinase levels. We have analysed the pedigrees of 61 families of DMD boys seen in the Duke Neuromuscular Research Clinic and 45 DMD families followed at the University of Virginia. The frequency of affected boys among the next born male sibs of 37 initially isolated DMD cases in two clinic populations was significantly greater than predicted by Haldane's theory (p = 0.029) and the estimated proportion of new mutant cases in the combined clinic population of 106 families was 0.127 (SE 0.111). The absence of affected males in earlier generations in families of isolated cases may be explained in part by a high ratio of male to female stillbirths and infant deaths, which was more than three times that of the normal population in this study. These data suggest that new mutant cases are less common than expected and current predictions may underestimate genetic risks in mothers of isolated cases.

Adult↗
PubMed1982

Syndactyly type V.

We report a mother and three of her four children with type V syndactyly. All the patients had metacarpal 4-5 fusion. The other hand anomalies consisted of abnormal origin of the fifth fingers, anomalies of digits 4 and 5, brachydactyly, syndactyly, camptodactyly, absent distal interphalangeal creases, and unusual palmar dermatoglyphics. Anomalies of the feet consisted of varus deviation of the metatarsals, valgus deviation of the toes, hyperplasia of the first ray, and hypoplasia of the third to fifth rays. None of the patients had metatarsal fusions. The anomalies were similar in the mother and her two older sons far less severe in her daughter. This daughter also had a congenital anomaly of the urinary tract. Anomalous and/or defective muscle and tendon insertions were demonstrated in one patient during an operation. Syndactyly V is transmitted as an autosomal dominant trait.

Abnormalities, Multiple↗
PubMed1982

Robinow's syndrome. Partial primary hypogonadism in pubertal boys, with persistence of micropenis.

We studied four patients with Robinow's syndrome. New findings included the following: (1) normal pubertal virilization with persistence of micropenis; (2) elevated basal serum follicle-stimulating hormone levels and a hyperresponse of serum luteinizing hormone to gonadorelin hydrochloride (Factrel) stimulation among postpubertal male patients, suggesting partial primary hypogonadism; (3) normal 5 alpha-reductase and androgen receptor activity in genital skin fibroblasts; and (4) normal to borderline adult height.

3-Oxo-5-alpha-Steroid 4-Dehydrogenase↗
PubMed1981

The Gordon syndrome: autosomal dominant cleft palate, camptodactyly, and club feet.

The triad of a camptodactyly, club feet, and cleft palate, called the Gordon syndrome, is a rare autosomal dominant trait with variable expressivity, known from only three previously described families. Here we report the condition in a mother and her daughter. They also had several previously undescribed anomalies, which suggests that the Gordon syndrome is a more complex malformation syndrome than previously suspected.

Abnormalities, Multiple↗
PubMed1980

The van der Woude syndrome in a large kindred: variability, penetrance, genetic risks.

The van der Woude syndrome was studied in a seven-generation kindred. Lip pits were the most common manifestation of affected persons. They occurred in 88% of the affected and were the only manifestations in 64%; clefts of lip and palate occurred in 21%. Penetrance was 96.7%. Careful examination showed minor manifestations of the syndrome in several individuals who had considered themselves unaffected. The distribution of manifestations and the risk to off-spring differed appreciably from that reported in the literature. The implications of these findings for genetic counseling are discussed.

Cleft Lip↗
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↗