[Type I tricho-rhino-phalangeal syndrome].
A two-year-old boy and his mother with the Tricho-Rhino-Phalangeal syndrome type I were studied. The mother showed the complete triad of the syndrome with fine, sparse, slow-growing hair, pear-shaped nose and abnormal fingers. Cone-shaped epiphyses of the phalanges of the hands and shortening of the mesophalanges and of the first and fifth metacarpals were observed radiographically. With the exception of the extreme shortening of several phalanges and metacarpals the above mentioned symptoms were also present in the son.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002675:Child, Preschool; D005260:Female; D005385:Fingers / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006130:Growth Disorders / Q000235:genetics; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D008297:Male; D009666:Nose / Q000002:abnormalities*; D011859:Radiography; D013577:Syndrome
Het tricho-rhino-falangeaal syndroom, type I.