Abstract

A case of tricho-rhino-phalangeal syndrome is reported. An 18-year-old man presentedwith sparse, slowly-growing scalp hairs, pear-shaped hypertrophic nose, prominent nasolabial fold, thin upperlip, irregular dentition, dystrophic nails, adduction of phalanges of the fifth and fourth toes, shortness of bothbig toes with no functional abnormality. No mental retardation was recognized. Microscopy revealed a gradualthinning at the proximal end of hairs with a decreased diameter. X-ray examination of hands and feetdemonstrated no abnormality in the phalanges of either hand, slight shortness of the first metatarsal bone and phalanges of the big toe, slight elongation of medial cuneiform bone, conical epiphysis on the phalanges of some toes. Key words: Tricho-rhino-phalangeal syndrome; Hair

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