[Hand and foot deformities in a type I trichorhinophalangeal syndrome. Studies in 3 members of a family].
The trichorhinophalangeal syndrome type I is a rare, probably autosomal-dominant inherited disorder, characterized by anomalies of the cranium and face, hair, skeleton and soft parts of the hands and the feet. Typical deformities of the syndrome in hands and feet (e.g. brachydactylie, deviation and curvature of fingers and toes due to cone-shaped joints) are explained by description of the findings in three adult members of a family.
Meyer
H H
HH
Unfallchirurgische Klinik des Friederikenstiftes Hannover.
Prescher
W
W
Reime
J
J
D000328:Adult; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D009666:Nose / Q000002:abnormalities*; D010375:Pedigree; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*
Hand- und Fussdeformitäten bei einem Trichorhinophalangeal-Syndrom Typ I. Beobachtungen bei drei Mitgliedern einer Familie.