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Biomedical subjects

I K Temple

Publications and source records attributed to I K Temple.

82 records · Page 5Linked to original sources
PubMed1990

De novo deletion of Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia, and anterior chamber eye anomalies.

A female infant is described with an unusual combination of eye and skin findings. Raw linear skin lesions on the face and neck were present at birth, healing to leave pigmented streaks. In addition she had left sided microphthalmia and bilateral sclerocornea. Chromosome analysis showed a terminal deletion of the short arm of the X chromosome (Xp22.2--pter). Clinical findings were similar to three previously described children with translocations involving Xp22.3. The condition probably represents a new syndrome distinct from incontinentia pigmenti and Goltz syndrome.

Chromosome Deletion↗
PubMed1990

Dilemmas in counselling: the EEC syndrome.

A family with the EEC syndrome is reported. Two sibs have the classical form of the condition with ectrodactyly, ectodermal dysplasia, and clefting. Their mother, however, has only minimal evidence, with preaxial polydactyly of the right hand and duplication of the terminal phalanx of the second toe of the left foot with 3/4 syndactyly. The dilemmas faced by the genetic counsellor are discussed in this variable autosomal dominant condition.

Abnormalities, Multiple↗
PubMed1990

Deletion Xp22.3.

Explore the source record for details and available documents.

Chromosome Deletion↗
PubMed1989

Kyphomelic dysplasia.

A case of kyphomelic dysplasia is reported in a boy followed up over three years. The most striking feature of this recessively inherited generalised bone dysplasia is marked angulation of the femora, associated with short stature, bowing and shortening of other long bones, metaphyseal changes in infancy, flared ribs, small thoracic cage, and platyspondyly. The good prognosis regarding motor and intellectual development in this condition is stressed and the association with cleft lip and palate is described for the first time.

Bone Diseases, Developmental↗
PubMed1988

Congenital spinal deformity in a three generation family.

Short stature resulting from spinal deformity in three generations of a family is reported. Multiple vertebral anomalies were found in the proband and are the probable underlying cause of the severe scoliosis seen in the adult members. The pattern of inheritance suggests that an autosomal dominant gene is responsible for this condition, but it may well be the same gene that causes the dominant form of spondylocostal dysostosis, this family representing one end of the spectrum with mild rib changes. The clinical features of spondylocostal dysostosis are reviewed.

Adolescent↗
PubMedDate not supplied

Hereditary hyperferritinemia cataract syndrome: ocular, genetic, and biochemical findings.

PURPOSE: To describe the cataract morphology and genetic and biochemical findings in a four-generation family with hereditary hyperferritinemia cataract syndrome (HHCS). METHODS: Family members of the proband with HHCS were investigated. DNA sequencing was carried out to identify the iron responsive element (IRE) of the L-ferritin gene in affected and non-affected family members. Molecular modeling allowed prediction of the structure of the mutant IRE in affected cases. Serum ferritin and transferrin saturation were determined using standard methods. All family members underwent slit lamp examination by an ophthalmologist to document presence of cataract or lens status. Cataract morphology was documented where present. RESULTS: This family with HHCS had the genetic heterozygous mutation G32C in the IRE of the L-ferritin mRNA. Lens opacities were detectable in young members of the family, and morphology of cataracts was consistent with previous reports. Biochemical testing demonstrated high serum ferritin levels in affected individuals. CONCLUSIONS: The morphology of cataracts in HHCS seems to be similar in all cases. In the heterozygous G32C mutation, the age at onset of cataracts is very early. Greater awareness of this condition among ophthalmologists will lead to effective family counseling of those affected, by genetic testing or simple biochemical tests. Serum ferritin levels can be effectively used to screen for this condition in suspected families.

Adolescent↗
PubMedDate not supplied

Central precocious puberty in a girl with triple X syndrome and neonatal diabetes mellitus associated with paternal isodisomy of chromosome 6.

We describe a girl with triple X syndrome and paternal isodisomy of chromosome 6 (UPD6), who developed neonatal diabetes mellitus (NDM) and precocious puberty. At birth she presented growth retardation and congenital anomalies (ventricular septal defect, macroglossia, umbilical hernia). Diabetes mellitus (DM) was diagnosed at 31 days of life and treated with insulin for 13 months. DM recurred at 4 years of age and since that time it required insulin, in spite of preserved beta-cell function. Tall stature was present from early childhood. At 7 years of age the girl presented central precocious puberty, height velocity further increased, but her near-final height was normal. This patient is unique in that precocious puberty has never been described in triple X females. Moreover it is a further example of paternal UPD6 causing NDM with a predisposition to type 2 DM in later life.

DNA↗