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July 1972

Picture of the Month

Author Affiliations

Boston; Toledo, Ohio

Am J Dis Child. 1972;124(1):89-90. doi:10.1001/archpedi.1972.02110130091014

Denouement and Discussion 

Tricho-Rhino-Phalangeal Syndrome 

Manifestations  Major manifestations involve the hair, hands, and nose. The scalp hair is sparse, fine, and grows slowly. Sparcity of the hair may be particularly striking in the frontotemporal area, the pubis, axillae, and the lateral portions of the eyebrows. The nails are unusually thin. The most prominent feature of the face is a pear-shaped nose and increased nasolabial distance. Supernumerary incisors and small teeth have been described. Although height may be normal, many of the patients are below the 10th percentile. Characteristically, the hands have enlargement of the middle phalangeal joints with ulnar deviation of the fingers distally from that point. The distal phalanx of the thumb and large toe are often short; brachydactyly and pes planus may also be present. Other skeletal findings may include scoliosis, lordosis, Legg-Perthes disease, and winging of the scapulae. Some patients have an increased susceptibility to upper respiratory infections.Roentgenograms show cone-shaped epiphyses of