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Biomedical subjects

R M Winter

Publications and source records attributed to R M Winter.

At least 163 records · Page 9Linked to original sources
PubMed1988

Distinctive syndrome of short stature, craniosynostosis, skeletal changes, and malformed ears.

We report on 2 unrelated boys with a distinctive facial appearance of microtia, atretic external auditory meati, small mandible, and microstomia, who also have a skeletal dysplasia, microcephaly, and joint contractures. The skeletal abnormalities, short stature, and microcephaly led to an initial diagnosis of osteodysplastic primordial dwarfism; however, the birth weight of one of the children is not low enough to firmly establish this diagnosis. The similarities were detected by the matching program of the London Dysmorphology Data-base.

Abnormalities, Multiple↗
PubMed1988

Sparse hair, short stature, hypoplastic thumbs, single upper central incisor and abnormal skin pigmentation: a possible "new" form of ectodermal dysplasia.

A family is described where a mother and three sons have an unusual form of ectodermal dysplasia that may have been described in the medical literature only once before. The unusual manifestations in this family are mild short stature, sparse scalp hair, skin pigmentation and a transient urticarial-like reaction on the hands and arms. The mother and one son demonstrated a single, upper central incisor and the mother and another son had hypoplastic thumbs. The mother alone had hyperkeratosis of the palms and soles. The inheritance pattern is most likely autosomal dominant, although X-linked dominant inheritance cannot be excluded.

Adult↗
PubMed1988

A mouse malformation mutant supplement to the London Dysmorphology Database.

A mouse malformation mutant supplement to the London Dysmorphology Database is described. Using a microcomputer, the mouse malformation database can be searched by asking for all mutants with a specific combination of physical abnormalities. The database is available free to interested researchers on receipt of two 5 1/4" floppy disks.

Animals↗
PubMed1988

Greig cephalopolysyndactyly syndrome: a possible mouse homologue (Xt-extra toes).

Greig cephalopolysyndactyly syndrome is an autosomal dominant form of complex polydactyly in man. Attention is called to the evidence that, on both morphological and comparative gene mapping grounds, this defect is homologous to Xt-extra toes in the mouse. The pattern of polydactyly in both species is very similar. In addition, both conditions probably map close to the T-cell receptor gamma polypeptide at 13 A2-3 in mouse and 7p15 in humans.

Animals↗
PubMed1988

Chromosomal localisation of a developmental gene in man: direct DNA analysis demonstrates that Greig cephalopolysyndactyly maps to 7p13.

Greig cephalopolysyndactyly syndrome (GCPS) is a rare autosomal dominant form of complex polydactyly. GCPS has been tentatively assigned to chromosome 7 on the basis of association of the condition with balanced translocations involving the short arm of chromosome 7 (7p13) in two families. Seven GCPS pedigrees with no chromosome abnormality were studied, and linkage was demonstrated between GCPS and the DNA sequence coding for the receptor for epidermal growth factor (localised to 7p12-13) (Z = 3.17; O = theta).

Chromosomes, Human, Pair 7↗
PubMed1988

Pulmonary agenesis as part of the VACTERL sequence.

Pulmonary agenesis is an uncommon anomaly that has been reported in isolation and in association with other congenital defects. Such defects include oesophageal atresia, cardiac malformation, horseshoe kidney, and anal atresia. Over a period of three years we have seen five neonates or fetuses with unilateral agenesis of the lung. All the cases had three or more anomalies seen in the VACTERL sequence in addition to the pulmonary atresia. None had a tracheo-oesophageal fistula. None were the products of consanguineous marriages. There had been no recurrence of this range of defects in any of the families at the time of writing. We suggest that pulmonary agenesis may occur as an alternative to tracheo-oesophageal fistula in the VACTERL sequence.

Abnormalities, Multiple↗
PubMed1988

Another family with the 'Habsburg jaw'.

We report a three generation family with similar facial characteristics to those of the Royal Habsburgs, including mandibular prognathism, thickened lower lip, prominent, often misshapen nose, flat malar areas, and mildly everted lower eyelids. One child had craniosynostosis which may be part of the syndrome.

Adult↗
PubMed1988

A combinatorial method for grouping cases with multiple malformations.

A combinatorial method is described for grouping cases with multiple malformations for the purpose of identifying previously undescribed syndromes. This method includes ways of carrying out 'tight' or 'loose' grouping, of allowing for variability of reporting of physical features by different observers, and of minimising the number of 'spurious' groups. Evaluation using a test data set of known dysmorphic syndromes showed that the method provides a feasible and useful means of grouping undiagnosed cases.

Abnormalities, Multiple↗
PubMed1988

A lethal short rib syndrome without polydactyly.

A female infant is described with a lethal short rib syndrome, similar to a form of short rib-polydactyly syndrome but without polydactyly. It is felt that this infant has the same condition as that described by Beemer et al.

Female↗
PubMed1988

Malformation syndromes: a review of mouse/human homology.

The purpose of this paper is to review the known and possible homologies between mouse and human multiple congenital anomaly syndromes. By identifying single gene defects causing similar developmental abnormalities in mouse and man, comparative gene mapping can be carried out, and if the loci in mouse and man are situated in homologous chromosome segments, further molecular studies can be performed to show that the loci are identical. This paper puts forward tentative homologies in the hope that some will be investigated and shown to be true homologies at the molecular level, thus providing mouse models for complex developmental syndromes. The mouse malformation syndromes are reviewed according to their major gene effects. X linked syndromes are reviewed separately because of the greater ease of establishing homology for these conditions.

Animals↗
PubMed1987

DOOR syndrome (deafness, onycho-osteodystrophy, and mental retardation): elevated plasma and urinary 2-oxoglutarate in three unrelated patients.

We describe three further children with the DOOR syndrome (deafness, onycho-osteodystrophy and mental retardation). A severe seizure disorder and characteristic facial appearance are part of the syndrome. Fourteen similar cases including the present patients are now on record. Autosomal recessive inheritance is likely. An increased level of 2-oxoglutarate in both plasma and urine has been found in our three patients. It is suggested there may be an inherited metabolic defect in this malformation syndrome.

Abnormalities, Multiple↗
PubMed1987

Radial ray defect and Duane anomaly: report of a family with autosomal dominant transmission.

We report on a family in which a mother and her 2 offspring presented with bilateral radial defects and absent thumbs. In addition, Duane anomaly was present in both offspring, one of whom also had anal stenosis. Clinical investigation showed no skeletal, cardiac, or urogenital abnormalities. Autosomal dominant transmission of radial defects is suggested, with Duane anomaly and anal stenosis representing manifestations of the same gene.

Abnormalities, Multiple↗
PubMed1987

Population genetics implications of the premutation hypothesis for the generation of the fragile X mental retardation gene.

The population genetics implications of the premutation hypothesis for the generation of the fragile X mental retardation gene are explored. With some broad assumptions, the consequences of the model are that 50% of mothers of probands carry the premutation; 6.5% of mothers of probands receive the premutation from their mothers, 18.9% from their fathers, and 24.6% as a "new mutation"; the incidence of carriers for the full mutation equals the incidence of affected males, whereas the incidence of carriers for the premutation is 1.35 times the incidence of affected males; assuming mutation rates are equal in eggs and sperm, the mutation rate from normal to premutation alleles is 1.67 X 10(-4); the expected segregation ratio in sibs of probands is 0.44, which corresponds to observed values. In addition, predictions using the premutation hypothesis of the expected segregation ratio in sibs of mothers of probands fits well with the data of Vogel and coworkers.

Female↗