Another family with tricho-rhino-phalangeal syndrome type III (Sugio-Kajii syndrome).
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).
Nagai
T
T
Division of Pediatrics, Tokyo Metropolitan Kiyose Children's Hospital, Japan.
Nishimura
G
G
Kasai
H
H
Hasegawa
T
T
Kato
R
R
Ohashi
H
H
Fukushima
Y
Y
D000015:Abnormalities, Multiple / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D000368:Aged; D003937:Diagnosis, Differential; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D005799:Genes, Dominant; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D008297:Male; D009666:Nose / Q000002:abnormalities*; D010375:Pedigree; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*