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Biomedical subjects

A Heimler

Publications and source records attributed to A Heimler.

15 recordsLinked to original sources
PubMed1987

Autosomal dominant transmission of ureteral triplication and bilateral amastia.

We report a case of ureteral triplication as part of an autosomal dominant syndrome comprising bilateral amastia, pectus excavatum, umbilical hernia, patent ductus arteriosus, dysmorphic low set ears, ptosis, epicanthic folds with an antimongoloid slant to the eyes, hypertelorism, high arched palate, flat broad nasal bridge, tapered digits, cubitus valgus and syndactyly.

Abnormalities, Multiple↗
PubMed1986

Branchio-oto-renal syndrome: reduced penetrance and variable expressivity in four generations of a large kindred.

The family on which this report is based is of interest because it contains individuals with the branchio-oto-renal (BOR) syndrome who have renal hypoplasia or malformations of the kidney or collecting system including duplication; only branchial and ear anomalies; and apparent nonpenetrance of the syndrome. This report provides evidence to support the hypothesis that in some families variable expressivity includes duplication of the urinary collecting system in individuals with other manifestations of the BOR syndrome as well as individuals with branchial and ear anomalies who have apparently normal kidneys.

Abnormalities, Multiple↗
PubMed1985

An unusual presentation of opalescent dentin and Brandywine isolate hereditary opalescent dentin in an Ashkenazic Jewish family.

Two children of Austrian Ashkenazic Jewish background, related as second cousins, have a variant of opalescent dentin in their deciduous teeth. This has been classified by Witkop as Brandywine isolate hereditary opalescent dentin and by Shields as dentinogenesis imperfecta type III. One of the children also has dysmorphic facial features, seizures, and severe mental retardation. Her mother has dysmorphic facial features and mild mental retardation. The mothers of both children and several other family members have classic opalescent dentin (dentinogenesis imperfecta type II). Radiographs of the deciduous and permanent dentitions of one mother showed obliterated pulp chambers. Confirmation of obliterated pulp chambers in the deciduous teeth of the mother of a child with Brandywine isolate hereditary opalescent dentin makes it unlikely that classic opalescent dentin and Brandywine isolate hereditary opalescent dentin are separate genetic disorders. Evidence from this family supports the hypothesis that Brandywine isolate hereditary opalescent dentin is a variant of opalescent dentin.

Adult↗