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PMID: 7341639 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't

New clinical observations in the trichorhinophalangeal syndrome.

Journal of craniofacial genetics and developmental biology ·Vol. 1 ·No. 1 ·1981-00-00 ·Pages 15-29

Goodman RM, Trilling R, Hertz M, Horoszowski H, Merlob P, Reisner S

Abstract

Two unrelated Jewish families are reported with new clinical and radiographic findings observed in the trichorhinophalangeal syndrome (TRPS). These new observations are mainly of a skeletal nature and emphasize the wide range of expressivity found in the TRPS. Furthermore, these bony defects along with the characteristic hair changes suggest that the basic defect in this syndrome involves some developmental alteration in the normal growth and maturation of bone and hair.

MeSH Terms
Abnormalities, Multiple/diagnostic imaging,genetics,pathology Adult Aged Bone and Bones/abnormalities Child, Preschool Female Hair/abnormalities Humans Male Radiography
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Goodman R M
Trilling R
Hertz M
Horoszowski H
Merlob P
Reisner S
Article Info
Journal
Journal of craniofacial genetics and developmental biology
Abbr.
J Craniofac Genet Dev Biol
ISSN
0270-4145
Published
1981-00-00
Pages
15-29
Language
English
Region
Denmark
NLM ID
8109845
Subset
IM
External Links
PubMed source
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