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

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

Research output: Contribution to journalArticle

15 Citations (Scopus)

Abstract

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).

Original languageEnglish
Pages (from-to)278-280
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume49
Issue number3
Publication statusPublished - 1994
Externally publishedYes

Fingerprint

Exostoses
Pyrus
Epiphyses
Metacarpal Bones
Nose
Intellectual Disability
Hair
Type III Trichorhinophalangeal Syndrome

Keywords

  • brachydactylia
  • cone-shaped epiphyses
  • pear-shaped nose
  • sparse hair

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Nagai, T., Nishimura, G., Kasai, H., Hasegawa, T., Kato, R., Ohashi, H., & Fukushima, Y. (1994). Another family with tricho-rhino-phalangeal syndrome Type III (Sugio- Kajii syndrome). American Journal of Medical Genetics, 49(3), 278-280.

Another family with tricho-rhino-phalangeal syndrome Type III (Sugio- Kajii syndrome). / Nagai, T.; Nishimura, G.; Kasai, H.; Hasegawa, Tomonobu; Kato, R.; Ohashi, H.; Fukushima, Y.

In: American Journal of Medical Genetics, Vol. 49, No. 3, 1994, p. 278-280.

Research output: Contribution to journalArticle

Nagai, T, Nishimura, G, Kasai, H, Hasegawa, T, Kato, R, Ohashi, H & Fukushima, Y 1994, 'Another family with tricho-rhino-phalangeal syndrome Type III (Sugio- Kajii syndrome)', American Journal of Medical Genetics, vol. 49, no. 3, pp. 278-280.
Nagai, T. ; Nishimura, G. ; Kasai, H. ; Hasegawa, Tomonobu ; Kato, R. ; Ohashi, H. ; Fukushima, Y. / Another family with tricho-rhino-phalangeal syndrome Type III (Sugio- Kajii syndrome). In: American Journal of Medical Genetics. 1994 ; Vol. 49, No. 3. pp. 278-280.
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