Trichorhinophalangeal syndrome type I

被引：0

作者：

George, S ^{[1
]}

Pulimood, S

Korah, I

机构：

[1] Christian Med Coll & Hosp, Dept Dermatol, Vellore 632004, Tamil Nadu, India

[2] Christian Med Coll & Hosp, Dept Radiodiag, Vellore 632004, Tamil Nadu, India

来源：

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY | 1998年 / 11卷 / 01期

关键词：

Trichorhinophalangeal syndrome; brachyphalangeal dysostoses;

D O I：

暂无

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

A 32-year-old short statured woman with alopecia, typical facies, shortened angulated fingers and toes with Trichorhinophalangeal syndrome type I (TRPS I) is reported. The absence of exostosis and mental retardation rule out TRPS Ii. The absence of generalized shortness of all phalanges, metacarpals and metatarsals distinguish it from TRPS III. Possibly the various types of Trichorhinophalangeal syndrome are genetically identical but have a varied clinical spectrum. (C) 1998 Elsevier Science B.V. All rights reserved

引用

页码：66 / 68

页数：3

共 14 条

[1]

CORRINGTON PR, 1994, J AM ACAD DERMATOL, V31, P331

[2]

Downing A, 1992, Int J Paediatr Dent, V2, P35

[3]

GIEDION A, 1966, HELV PAEDIATR ACTA, V21, P475

[4]

Giedion A, 1967, Ann Radiol (Paris), V10, P322

[5] SEVERE MENTAL-RETARDATION IN A PATIENT WITH TRICHORHINOPHALANGEAL SYNDROME TYPE-I AND 8Q DELETION [J].

HAMERS, A ;

JONGBLOET, P ;

PEETERS, G ;

FRYNS, JP ;

GERAEDTS, J .

EUROPEAN JOURNAL OF PEDIATRICS, 1990, 149 (09) :618-620

[6]

HARPER J, 1992, TXB DERMATOLOGY, P340

[7] TRICHORHINOPHALANGEAL SYNDROME TYPE-III [J].

KAJII, T ;

GONZALEZ, IF ;

MATSUURA, S .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1994, 49 (03) :349-350

[8]

LALEVICVASIC BM, 1994, ANN DERMATOL VENER, V121, P618

[9] TRICHORHINOPHALANGEAL SYNDROME TYPE-I (TRP-I) DUE TO AN APPARENTLY BALANCED TRANSLOCATION INVOLVING 8Q24 [J].

MARCHAU, FE ;

VANROY, BC ;

PARIZEL, PM ;

LAMBERT, JR ;

DECANCK, I ;

LEROY, JG ;

GEVAERT, CM ;

WILLEMS, PJ ;

DUMON, JE .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 45 (04) :450-455

[10]

MEHTA L, 1992, Indian Journal of Pediatrics, V59, P373, DOI 10.1007/BF02821808

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