Tricho-rhino-phalangeal syndrome type I.
Tricho-rhino-phalangeal syndrome type I (TRPS I) is characterized by a bulbous nose, sparse hair and epiphyseal coning. Autosomal dominant and recessive transmission are suggested. The presence of cone-shaped epiphyses, the major complaint of patients due to swelling over the phalangeal joints, requires differential diagnosis among various syndromes. This paper, describing a ten-year-old girl with TRPS I, aims to bring the features of the syndrome to medical attention.
Eroğlu
Y
Y
Department of Pediatrics, Dokuz Eylül University Faculty of Medicine, Izmir.
Erçal
D
D
D000015:Abnormalities, Multiple; D002648:Child; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D007039:Hypotrichosis / Q000150:complications; D009666:Nose / Q000002:abnormalities*; D013577:Syndrome