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Biomedical subjects

D Bixler

Publications and source records attributed to D Bixler.

At least 109 records · Page 6Linked to original sources
PubMed1974

Congenital X-linked cataract, dental anomalies and brachymetacarpalia.

An investigation of a family with congenital X-linked cataracts, microcorneas, supernumerary incisors, anteverted pinnae and shortened metacarpals is presented. The carriers had posterior sutural opacities and cone-shaped teeth. There have been four previously reported families with X-linked cataracts, one of which also presented microcorneas. Four other families have been reported with X-linked cataracts, microphthalmia and somatic and mental anomalies. Linkage studies could be used to demonstrate whether these diseases result from allelic or nonallelic genes but were uniformative in the present family.

Cataract↗
PubMed1971

Cherubism: a family study to delineate gene action on mandibular growth and development.

A family with autosomal dominant cherubism is described. Two brothers in a sibship of five who have each had two affected sons show none of typical clinical features of the disease. Their parents also appear unaffected. Roentgenographic study of the skulls of the grandfather and the two fathers of affecteds revealed previously unreported mandibular bone changes compatible with cherubism at an earlier age.

Adolescent↗
PubMed1971

Pierre Robin syndrome occurring in two related sibships.

Four children affected with Pierre Robin syndrome occurring in two related sibships are described. The fathers of these sibships are second cousins and both of them have deceased sibs with histories of respiratory or feeding difficulties or both, or cleft palate. Mode of inheritance suggested by these findings is autosomal dominant with variable expression and incomplete penetrance.

Adult↗
PubMed1971

Hypogandotropic hypogonadism with anosmia: the Kallmann syndrome.

Five cases are presented and the literature reviewed concerning the association of anosmia or hyposmia and hypogonadotropic hypogonadism (Kallmann syndrome). Two of the five cases are sporadic and without associated anomalies, the third is associated with ichthyosis and epilepsy, the fourth has a sister with hypogonadism and cleft lip and palate while the fifth case also has Albright's hereditary osteodystrophy (pseudopseudohypoparathyroidism). It is concluded that "Kallmann syndrome" is present in a wide spectrum of disorders with different genetic etiologies.

Adult↗