SUMMARY We report four patients with hypertrichosis cubiti who were referred for investigation of short stature. Two males, whose height was on and just below the 3rd centile respectively, were sporadic cases and two females with disproportionate short stature were mother and daughter. Radiological changes present in the familial cases were non-specific and biochemical investigations were normal. Of the four other published cases, two were sporadic and of normal height. The other two were sibs with short stature and their parents were heterozygous for the Weill-Marchesani syndrome. We were unable to ascertain whether hypertrichosis cubiti cosegregates with the same type of skeletal dysplasia or elucidate the type of genetic transmissior of hypertrichosis cubiti alone.Hypertrichosis cubiti was first reported by Beighton,l who described a localised hypertrichosis confined to the extensor surface of the elbow regions in two sibs from an inbred Amish family. They had normal development and clinical abnormalities were confined to short stature and foreshortened, but not dysplastic, nails. Their parents were short and both were heterozygous for the Weill-Marchesani syndrome. The short stature of the affected sibs was not investigated. Subsequently, Rudolph2 and Andrev and Stansky3 each reported a sporadic case of hypertrichosis cubiti without other clinical abnormalities. Sighting of a case in the local parish A church congregation was reported by Warner4 and a few cases were apparently observed, but not published.3We have had the opportunity to examine four previously unreported patients with hypertrichosis cubiti, all of whom were referred for investigation of short stature.
Case reportsTwo males and two females presented with a history of excessive hair growth over the lateral aspects of the lower third of the upper arm and upper third of the forearm observed soon after birth. In early childhood the hair became coarser, sometimes
This patient was the only child of healthy unrelated parents. At the time of her birth her father was 33 years old and her mother was 35 years old. The pregnancy was uncomplicated. Her birth weight was 3-6 kg. At birth she was found to have syndactyly of the third, fourth, and fifth fingers on the left, and of the fourth and fifth fingers on the right. Radiological examination revealed absence of the middle phalanx of the fifth digits and there was an osseous fusion of the terminal phalanges of the fourth and fifth digits. She also had a cleft of the soft palate and partial syndactyly between the second and third toes of both feet. The cleft palate and syndactyly of the fingers have been corrected surgically. Her psychomotor development was normal.On examination (aged 6 years) she was well built with a square shaped head (fig 1). Her hair was thin and sparse. She had a flat face with ocular hypotelorism and prominent epicanthic folds. The interpupillary distance was reduced (40 mm, 3rd centile), while the inner canthal distance was within
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