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Biomedical subjects

I K Temple

Publications and source records attributed to I K Temple.

At least 73 records · Page 4Linked to original sources
PubMed1994

Distichiasis-lymphoedema syndrome: a family report.

Distichiasis-lymphoedema syndrome is described in a mother and son. The mother was found to have a double uterus in addition to distichiasis and peripheral oedema. Her son presented with the Pierre Robin sequence which is a rare but previously described feature of the condition.

Abnormalities, Multiple↗
PubMed1994

Further observations on the Floating-Harbor syndrome.

We report two unrelated female patients aged 2- and 15-years-old with short stature, language delay and craniofacial anomalies consistent with the Floating-Harbor syndrome. One patient had evidence of coeliac disease. This increasingly recognized association suggests pleiotropism.

Abnormalities, Multiple↗
PubMed1992

Char syndrome (unusual mouth, patent ductus arteriosus, phalangeal anomalies).

A mother and son are described with unusual facies, patent ductus arteriosus, fusion of distal interphalangeal joints and mild learning difficulties. The facial features include hypertelorism, strabismus, flat nasal bridge, short philtrum and a triangular mouth. This autosomal dominant syndrome has been reported in one other family by F. Char (1978).

Abnormalities, Multiple↗
PubMed1991

Genetic and clinical heterogeneity of Stickler syndrome.

We have studied 6 multigeneration Stickler syndrome families. Manifestations of the syndrome in the families included myopia, deafness, arthritis, characteristic facial changes with "flat" midface and cleft palate, although not all these were present in all families. COL2A1 has been implicated as a gene which can give rise to Stickler syndrome based on evidence from 2 large families which each showed significant linkage between the disease locus and restriction fragment length polymorphisms for the gene (Francomano CA, Lieberfarb RM, Hirose T, Maumenee IH, Streeten EA, Meyers DA, Pyeritz RE (1987): Genomics 1:293-296; Knowlton RG, Weaver EJ, Struyk AF, Knobloch WH, King RA, Norris K, Shamban A, Uitoo J, Jimenez SA, Prockop DJ (1989): Am J Hum Genet 45:681-688). We have found crossovers between the disease locus and COL2A1 in 2 families with Stickler syndrome. This could be explained by either genetic heterogeneity or the actual mutation being in a closely linked, currently unrecognized gene. We found a weakly positive overall lod score (z = 0.96 at theta = 0.10) suggesting that genetic heterogeneity is a more likely explanation. In one family, with typical findings, a translocation t5;17 (q15:q23) was found to segregate with the disease in 4 affected relatives. In view of the possible heterogeneity, although no crossovers with COL2A1 were seen in this family, either of these breakpoints could be the position of a further disease causing gene.

Abnormalities, Multiple↗
PubMed1991

Response to hepatitis B vaccine in relation to the hepatitis B status of family members.

The influence of the hepatitis B status of family members on the response to hepatitis B vaccine of an infant has been examined in 395 families. The presence of one or more HBsAg-positive family members did not appear to have any effect on the vaccine response. This is an encouraging finding as children born into carrier families are at an increased risk of becoming carriers themselves. That the vaccine response of such children is as good as for those born into non-carrier families means that they are likely to be protected against the carrier state by the vaccine.

Family↗
PubMed1991

Atypical facio-scapulo-humeral muscular dystrophy--a counselling dilemma.

In an isolated male patient, differentiation between Facio-Scapulo-Humeral Muscular Dystrophy (FSH) and Becker Muscular Dystrophy (BMD) may be difficult. To emphasise this point, we report a patient, whose features are atypical of FSH. Details of his daughter who now manifests similar presenting features, are provided. The pitfalls posed for the genetic counsellor by FSH presenting in an atypical manner which clinically overlaps with genetically distinct conditions are discussed in the light of this pedigree.

Adult↗
PubMed1991

Microtia and short stature: a new syndrome.

Bilateral microtia, absent patellae, short stature, poor weight gain, and characteristic facial features are described in two female sibs. Other skeletal anomalies included complete habitual dislocation of the elbow, slender ribs and long bones, abnormal modelling of the glenoid fossae with hooked clavicles, and clinodactyly. Bone age was significantly delayed and there was flattening of the epiphyses. This unusual combination of features has many similarities to the syndrome described by Hurst et al.

Abnormalities, Multiple↗
PubMed1991

Maternal uniparental disomy for chromosome 14.

We report the first case of maternal uniparental disomy of chromosome 14 in humans. The male proband inherited a balanced 13;14 Robertsonian translocation from his mother. Molecular studies showed that neither chromosome 14 was of paternal origin. The proband is of above average intelligence, but he has hydrocephalus, a bifid uvula, premature puberty, short stature, and small testes. It is not known if the clinical findings are related or coincidental to the uniparental disomy.

Blotting, Southern↗
PubMed1990

Midline facial defects with ocular colobomata.

We describe 5 children with midline facial anomalies and iris colobomata reminiscent of frontonasal "dysplasia." Two patients have, in addition, abnormalities of the eyelids and one of them probably has the rare autosomal recessive condition frontofacionasal "dysplasia." The patients may have a new syndrome of midline facial defects, iris colobomata, and mental retardation.

Abnormalities, Multiple↗
PubMed1990

Frontonasal dysplasia or craniofrontonasal dysplasia and the Poland anomaly?

We describe a 10-year-old girl with features of a frontonasal dysplasia and a right-sided Poland anomaly. As there has been one previous case report of pectoral muscle hypoplasia in association with craniofrontonasal dysplasia, the relationship between these two conditions is discussed.

Abnormalities, Multiple↗
PubMed1990

Partial lipodystrophy syndromes--a further male case.

Details are presented of a boy with partial lipodystrophy. Only one male case has previously been described with this condition. The spectrum of partial lipodystrophy syndromes and the inheritance thereof are discussed in relation to our case.

Genetic Counseling↗