A case of trichorhinophalangeal syndrome, type I.

Abstract:

:A single case of trichorhinophalangeal syndrome, type I, is reported. The patient manifested the complete triad of the syndrome: thin, sparse, slow-growing scalp hairs; a pear-shaped nose; and cone-shaped epiphysis in some interphalangeal articulations of both hands. In addition, tooth decay, pectus carinatum, lumbar scoliosis, and polycystic ovary were observed. This multisystemic disorder is apparently rare, but its prevalence is probably underestimated in the dermatologic literature.

journal_name

Cutis

journal_title

Cutis

authors

Braga D,Manganoni AM,Gavazzoni R,Pasolini G,De Panfilis G

subject

Has Abstract

pub_date

1994-02-01 00:00:00

pages

92-4

issue

2

eissn

0011-4162

issn

2326-6929

journal_volume

53

pub_type

杂志文章

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