Another family with tricho-rhino-phalangeal syndrome Type III (Sugio- Kajii syndrome)

T. Nagai, G. Nishimura, H. Kasai, T. Hasegawa, R. Kato, H. Ohashi, Y. Fukushima

研究成果: Article査読

17 被引用数 (Scopus)

抄録

Tricho-rhino-phalangeal syndrome Type III (TRPS III) is a newly defined genetic entity. Only 9 patients in a family and one sporadic patient have been reported. We add another family in which 4 individuals in 3 generations are affected with this autosomal dominant trait. Although they manifested short stature, sparse hair, 'pear-shaped' nose, and cone-shaped epiphyses, sharing these findings with TRPS Type I, the presence of a severe form of generalized shortness of all phalanges and metacarpals, and the absences of mental deficiency and exostoses in this family distinguish the disorder from the TRPS Types I and II. Their manifestations are quite similar to those of the patients reported as TRPS III (Sugio-Kajii syndrome).

本文言語English
ページ(範囲)278-280
ページ数3
ジャーナルAmerican journal of medical genetics
49
3
DOI
出版ステータスPublished - 1994
外部発表はい

ASJC Scopus subject areas

  • 遺伝学(臨床)

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