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  • Title: Another family with tricho-rhino-phalangeal syndrome type III (Sugio-Kajii syndrome).
    Author: Nagai T, Nishimura G, Kasai H, Hasegawa T, Kato R, Ohashi H, Fukushima Y.
    Journal: Am J Med Genet; 1994 Feb 01; 49(3):278-80. PubMed ID: 8209886.
    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).
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