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Biomedical subjects

J L Tolmie

Publications and source records attributed to J L Tolmie.

67 records · Page 4Linked to original sources
PubMed1988

A familial syndrome with coats' reaction retinal angiomas, hair and nail defects and intracranial calcification.

We describe two sisters who have bilateral Coats reaction of the retina, intracranial calcification, sparse hair and dysplastic nails. The younger sibling has in addition distinct retinal angiomas in one eye. This combination of clinical findings has not been reported previously and is probably due to an autosomal recessive gene defect. Laser photocoagulation and cryotherapy has preserved good function in one eye of each child.

Alopecia↗
PubMed1988

Palmoplantar keratoderma, nail dystrophy, and hereditary motor and sensory neuropathy: an autosomal dominant trait.

Autosomal dominant inheritance of a syndrome comprising palmoplantar keratoderma, nail dystrophy, and hereditary motor and sensory neuropathy (HMSN) was observed in three generations of one family. Nail dystrophy affected the toe and fingernails; it was present at birth or developed during early childhood. Palmoplantar keratoderma became apparent in later childhood. Each subject with nail dystrophy and keratoderma also had clinical or electrophysiological evidence of axonal neuropathy.

Child↗
PubMed1988

Spondylothoracic and spondylocostal dysostosis. Hereditary forms of spinal deformity.

Two siblings with spondylothoracic dysostosis, and two siblings and three unrelated children with spondylocostal dysostosis are described. Both conditions are inherited and characterised by malformed thoracic and lumbar vertebrae. Spondylothoracic dysostosis produces "crab-like" deformities of the ribs, and is usually fatal during early infancy due to respiratory failure. Spondylocostal dysostosis causes short-trunked dwarfism but does not usually reduce life expectancy. These clinical features are distinct from congenital scoliosis, although all three conditions are associated with a particular group of malformations.

Abnormalities, Multiple↗
PubMed1987

Mapping the testis determinants by an analysis of Y-specific sequences in males with apparent XX and XO karyotypes and females with XY karyotypes.

A number of patients with paradoxical sex chromosome complements (so-called XY females, XX and XO males) have been investigated with a series of 19 Yp and 4 Yq DNA probes to establish which region of the Y is essential for male sexual differentiation. Of the 23 XX males, 18 possessed one or more Yp probe sequences with only 5 lacking such sequences. Of 9 XY females examined, only one showed evidence of a deletion in Yp occurring either as a result of X-Y interchange or interstitial deletion. This suggests that the majority of XY females are not commonly deleted for those Y sequences which are found to be transferred to the X in XX males. The DNA of two XO males both contained different portions of the Y. From a comparison of the patterns of Yp sequences in these patients, it has been possible to elaborate a model of Yp in terms of the order of probe sequences and to suggest a location for the testis determining region in distal Yp.

Chromosome Deletion↗
PubMed1987

Genetic aspects of early childhood scoliosis.

Eighty-seven families with early onset scoliosis were evaluated. These were divided into 3 groups: resolving infantile idiopathic scoliosis (15 families), progressive infantile idiopathic scoliosis (21 families), and congenital scoliosis due to vertebral malformations (51 families). The children with congenital scoliosis were subdivided into those who had closed neural arch defects (19 families) and those who did not (32 families). Resolving infantile idiopathic scoliosis was usually associated with plagiocephaly, and both deformations tended to show spontaneous recovery. These children were otherwise normal. Seven (33%) of the children with progressive infantile idiopathic scoliosis were mentally retarded, but only 2 had a congenital malformation. In contrast, 18 (33%) of the children with congenital scoliosis had other malformations, but only 2 were mentally retarded. The recurrence risk for scoliosis was low in each group studied. However, there was an increased risk (4% for sibs) of neural tube defects in the families with congenital scoliosis (with or without neural arch defects). This sib risk was apparent for probands with only a single hemivertebrum in addition to probands with more extensive vertebral defects and would support an etiological relationship between neural tube defects and other vertebral malformations.

Abnormalities, Multiple↗
PubMed1987

Microcephaly: genetic counselling and antenatal diagnosis after the birth of an affected child.

We describe the clinical and genetic details of a series of microcephalic patients who were referred to the Genetic Counselling Service for the West of Scotland. There were 29 isolated cases of microcephaly and 9 families with recurrent microcephaly. The sib recurrence risk was 19%, which reflects the high incidence of autosomal recessive microcephaly in this series. There was evidence for several varieties of recessive microcephaly. The most frequent, affecting 5 sib pairs, was associated with spastic quadriplegia, seizures, and profound mental handicap. In 15 families with one microcephalic child, prenatal diagnosis by serial ultrasound scans was undertaken in 21 subsequent pregnancies. Four recurrences of microcephaly were detected in the third trimester and one recurrence was missed because no scans were performed after 24 wk gestation when the ultrasound measurements indicated satisfactory head growth. The main reason for late diagnosis of affected fetuses was that head growth did not slow appreciably until the last trimester. The high recurrence risk in this prospective series emphasizes the contribution of autosomal recessive inheritance of microcephaly amongst patients of our Genetic Counselling Service.

Female↗
PubMed1987

A lethal multiple pterygium syndrome with apparent X-linked recessive inheritance.

We describe three male fetuses with a lethal multiple pterygium syndrome (LMPS). The family was ascertained when the first pregnancy of healthy, unrelated Scottish parents ended with a miscarriage at 23 weeks gestation. The macerated male fetus had a cystic hygroma, cleft palate, and webbing of the neck, elbows, and thighs. Radiographs showed lack of modeling of long bones, with broad ribs and clavicles, hypoplastic radii and ulnae, abnormal jaw angle, and dislocated femoral heads. Two other fetuses with similar anomalies were born to a first cousin of the propositus. These three male fetuses with a similar lethal multiple pterygium syndrome born to mothers who are second-degree relatives through the female line suggest X-linked recessive inheritance of LMPS in this family.

Abortion, Induced↗
PubMed1987

Second trimester prenatal diagnosis of the Jarcho-Levin syndrome.

The Jarcho-Levin syndrome (spondylothoracic dysostosis) is a rare autosomal recessive disorder characterized by a short neck, short trunk and a constricted thorax due to multiple rib and vertebral defects; other visceral malformations are occasionally present. Most cases die in infancy due to respiratory failure. In this report we describe two cases in one family from the United Kingdom. Prenatal diagnosis by ultrasound examination during the second trimester was successfully accomplished in the second case.

Abnormalities, Multiple↗
PubMed1987

Atypical malformations in an infant exposed to warfarin during the first trimester of pregnancy.

We report a dysmorphic female infant whose mother took warfarin in therapeutic doses during the first 6 weeks of pregnancy. At birth the infant was small for dates and had a triangular facial appearance, micrognathia, microglossia, short fingers and toes, and hypoplastic nails. A skeletal survey revealed hypoplastic distal phalanges in the fingers and toes; there was no epiphyseal stippling. The pattern of malformations present in this infant may either represent the earliest teratogenic effects of warfarin or the fortuitous association of exposure to warfarin and unexplained dysmorphic features.

Abnormalities, Drug-Induced↗
PubMed1987

Congenital anal anomalies in two families with the Opitz G syndrome.

Five children from two families presented to a regional neonatal surgical unit between 1959 and 1984 with congenital anal anomalies and other malformations resulting from an autosomal dominant inherited condition, the Opitz G syndrome. This and other Mendelian causes of congenital anal malformations are briefly discussed in view of their importance for genetic counselling.

Abnormalities, Multiple↗