Tricho-rhino-phalangeal syndrome type I

Y Eroğlu; D Erçal

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Journal article

Peer reviewed

Tricho-rhino-phalangeal syndrome type I

Y Eroğlu and D Erçal

Turkish journal of pediatrics, Vol.38(4), pp.537-542

10/01/1996

PMID: 8993187

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Abstract

Tricho-rhino-phalangeal syndrome type I (TRPS I) is characterized by a bulbous nose, sparse hair and epiphyseal coning. Autosomal dominant and recessive transmission are suggested. The presence of cone-shaped epiphyses, the major complaint of patients due to swelling over the phalangeal joints, requires differential diagnosis among various syndromes. This paper, describing a ten-year-old girl with TRPS I, aims to bring the features of the syndrome to medical attention.

Details

Title: Subtitle: Tricho-rhino-phalangeal syndrome type I
Creators: Y Eroğlu
D Erçal
Resource Type: Journal article
Publication Details: Turkish journal of pediatrics, Vol.38(4), pp.537-542
PMID: 8993187
ISSN: 0041-4301
Language: English
Date published: 10/01/1996
Academic Unit: Stead Family Department of Pediatrics; Gastroenterology, Hepatology, Pancreatology, and Nutrition
Record Identifier: 9984694753802771

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