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Biomedical subjects

R M Winter

Publications and source records attributed to R M Winter.

At least 199 records · Page 11Linked to original sources
PubMed1985

The Aase-Smith syndrome.

A distinct syndrome with hand abnormalities, joint contractures, cleft palate and a Dandy-Walker malformation was reported by Aase & Smith (1968). This paper reports a second example of this syndrome in a mother and daughter.

Abnormalities, Multiple↗
PubMed1985

The clinical features of the Cohen syndrome: further case reports.

We report the clinical features of six patients with the Cohen syndrome. The characteristic features include mental retardation, truncal obesity, prominent incisors, and tapering digits. Pelviureteric obstruction and epilepsy are reported as possible new features of this syndrome.

Abnormalities, Multiple↗
PubMed1985

Familial absence of the pectoralis major, serratus anterior, and latissimus dorsi muscles.

Congenital absence of shoulder girdle muscles is described in three generations of a family. The proband, a 3 year old boy, had absence of the sternocostal head of the right pectoralis major. His father had absence of the left serratus anterior and part of the left latissimus dorsi and his paternal grandfather had absence of the lower two-thirds of the left pectoralis major, with absence of the left serratus anterior and latissimus dorsi muscles. The condition is probably the result of a dominant gene. These observations show that absence of the pectoralis major is part of a wider spectrum of shoulder girdle defects. Where genetic advice is sought by persons with apparently sporadic absence of the pectoralis major, examination of the relatives is necessary.

Dermatoglyphics↗
PubMed1984

A clinically useful DNA probe closely linked to haemophilia A.

Genetic linkage studies were done in families segregating for haemophilia A with an X-chromosome-specific probe, DX13, which has been localised to band Xq28. When DNA is digested with the restriction enzyme Bg1 II, this probe recognises a restriction fragment length polymorphism, for which 50% of females are heterozygous. No crossovers were seen between the haemophilia A locus and the DX13 locus (lod score = 5.4 at recombination fraction [theta] 0.0; 95% confidence limits of theta, 0-12%). This indicates that the DX13 probe is closely linked to the haemophilia A locus and is likely to prove useful in carrier detection and prenatal diagnosis.

Alleles↗
PubMed1984

Polymorphisms in the 5'-flanking region of the insulin gene and non-insulin-dependent diabetes.

DNA insertions in the 5'-flanking region of the insulin gene have been studied by Southern-blot-hybridization techniques using a cloned gene probe in 159 unrelated Caucasians. Subjects homozygous for a large DNA insertion at this locus were found to have a higher risk of concurrence of non-insulin-dependent diabetes (NIDD) than controls (P less than 0.01). Analysis of a single large NIDD pedigree (n = 67 in four generations; 11 diabetic subjects) showed no linkage between the size of DNA inserts and diabetes (Lod score = -5.7), suggesting a separate diabetogenic locus (or loci) in this family.

DNA Transposable Elements↗
PubMed1984

The radiology of stillbirths and neonatal deaths.

Whole body radiographs were made in a consecutive series of 488 infants who were either stillborn or died within the first month of life; autopsies were done in 378. The radiographs were considered to have been useful, or diagnostic in 16% overall, in 100% of infants with dwarfism, in 40% where there were external malformations; and in 9% where there were no external malformations.

Bone and Bones↗
PubMed1984

Clinical use of DNA markers linked to the gene for Duchenne muscular dystrophy.

Seventy families with Duchenne muscular dystrophy (DMD) known to the Institute of Child Health fall into three categories with respect to potential linkage analysis with the X chromosome DNA markers RC8 and L1.28 that bridge the DMD gene. Families in which there is at least one obligatory female heterozygote (n = 13). Here 'prediction' and 'exclusion' of DMD gene transmission may be possible, the accuracy being dependent on the closeness of the linkage of the DNA marker(s) to the DMD gene; an illustrative case is reported. Families in which there is a single affected boy, who also has one or more healthy brothers (n = 26). Given an informative restriction fragment length polymorphism (RFLP), the probability that the boy represents a new mutation can be reassessed; it is also possible to 'exclude' the DMD gene in a sister. Families with a single affected boy with no brother (n = 30). Here 'exclusion' of the DMD gene in a sister may be possible. Only in one family was there no possibility of useful linkage analysis. The linkage analysis required is described, and the need to check DMD families for informative RFLPs is stressed.

Base Sequence↗
PubMed1984

A computerised data base for the diagnosis of rare dysmorphic syndromes.

A system is described for the computerised storage and retrieval of information on rare dysmorphic syndromes. The clinician can ask a microcomputer for a list of syndromes with any logical combination of physical abnormalities. A descriptive title and full references are also provided on request. Similar systems would be applicable to other medical specialties.

Abnormalities, Multiple↗
PubMed1984

The 3-M syndrome.

Five patients from four families, including two male sibs, are reported with clinical and radiological features of the 3-M syndrome.

Abnormalities, Multiple↗
PubMed1984

The femoral hypoplasia-unusual facies syndrome.

A series of thirteen persons with bilateral femoral hypoplasia are presented. Six of these had facial features compatible with a diagnosis of femoral hypoplasia-unusual facies syndrome. One was attributable to severe fetal constraint secondary to oligohydramnios, three were associated with maternal diabetes, and two were idiopathic. All thirteen cases were sporadic.

Abnormalities, Multiple↗