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PMID: 1163078 Published · ppublish ger Case Reports English Abstract Journal Article

[Tricho-rhino-phalangeal syndrome with autosomal dominant inheritance (author's transl)].

Tricho-rhino-phalangeales Syndrom mit autosomal dominantem Erbgang

Zeitschrift fur Kinderheilkunde ·Vol. 120 ·No. 2 ·1975-08-11 ·Pages 141-50

Frisch H, Vormittag W

Abstract

Sparse, slowly growing hair, a big pear-shaped nose and deformities of the fingers are the main characteristics of the tricho-rhino-phalangeal syndrome (TRP); dwarfism is a facultative sign. The cone shaped invagination of the epiphysis into the diaphysis of the fingers and toes causes clinodactyly and brachydactyly. The typical physiognomy of the TRP leads to the suspected diagnosis which may easily be confirmed by X-ray examination. In a 13-year-old girl the classical signs of a TRP were found; several members of the family demonstrated some features of the syndrome. Dermatoglyphic examinations were performed on 9 members of the family.

MeSH Terms
Abnormalities, Multiple/diagnosis,genetics Adolescent Dermatoglyphics Dwarfism/complications Female Fingers/abnormalities Hair/abnormalities,growth & development Humans Nose Deformities, Acquired Pedigree Syndrome Time Factors
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Frisch H
Vormittag W
Article Info
Journal
Zeitschrift fur Kinderheilkunde
Abbr.
Z Kinderheilkd
ISSN
0044-2917
Published
1975-08-11
Pages
141-50
Language
ger
Region
Germany
NLM ID
7604363
Subset
IM
External Links
PubMed source
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