The trichorhinophalangeal dysplasia syndrome: report of eight kindreds, with emphasis on hip complications, late presentations, and premature osteoarthrosis.

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Article

The trichorhinophalangeal dysplasia syndrome: report of eight kindreds, with emphasis on hip complications, late presentations, and premature osteoarthrosis.

Journal of pediatric orthopedics - 1 Jan 2000

Cope R, Beals R K, Bennett R M

Abstract excerpt

The trichorhinophalangeal dysplasia syndrome is characterized by peripheral cone-shaped epiphyses and unusual facies and hair. It is generally considered to be an uncommon dysplasia that presents in childhood. Thirteen cases in eight kindreds are reported. In four patients, the diagnosis was not...

Topics

Abnormalities, Multiple
Adolescent
Adult
Child
Child, Preschool
Diagnosis, Differential
Epiphyses
Female
Femur Head Necrosis
Growth Disorders
Hair
Hip
Humans
Male
Middle Aged
Nose
Osteoarthritis
Phenotype

Source

Open in PubMed

Identifiers

PMID: 3958163

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-3958163-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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