Sporadic case of trichorhinophalangeal syndrome type III in a European patient.
Trichorhinophalangeal syndrome type III (TRP III) shares common traits with TRP I and II, including sparse hair, a "pear-shaped" nose, osteodysplasia with cone-shaped epiphyses, and autosomal dominant inheritance, but is distinguished by the presence of severe brachydactyly. TRP III was first described in 1984 in Japanese patients, one sporadic case [Sugio and Kajii, 1984: Am. J. Med. Genet. 19:741-753,1984] and two families [Niikawa and Kamei, 1986: Am. J. Med. Genet. 24:759-760; Nagaï et al., 1994: Am. J. Med. Genet. 49:278-280], and more recently in a Turkish family [Itin et al., 1996: Dermatology 193:349-352]. We report an additional observation in a patient of European descent, who presented with short stature, cone-shaped epiphyses, sparse hair, a pear-shaped nose, normal intelligence and severe brachydactyly. Neither parent had manifestations of TRP and there was no other reported case in the family, indicating a presumably fresh mutation. Our observation refines the clinical spectrum of TRP III in another ethnic background and may be of help in identifying the gene or genes for TRP syndromes.
Vilain
C
C
Department of Medical Genetics, Brussels University Clinics-Hôpital Erasme, Free University of Brussels (ULB), Brussels, Belgium.
Sznajer
Y
Y
Rypens
F
F
Désir
D
D
Abramowicz
M J
MJ
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D001530:Belgium; D001827:Body Height; D002874:Chromosome Mapping; D002898:Chromosomes, Human, Pair 8; D003937:Diagnosis, Differential; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D007039:Hypotrichosis / Q000235:genetics; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000235:genetics; D013577:Syndrome