Hajdu-Cheney syndrome.

Correspondence to: Dr Marian O'Reilly, Department of Radiology, St George's Hospital, Blackshaw Road, London SW17, United Kingdom. Clinical history The patient, a female child, was born at 37 week gestation by a spontaneous vaginal delivery following an uneventful pregnancy. The parents were not consanguinous. Two older siblings were alive and well. Respiratory difficulties with cyanotic episodes occurred during the first few months of life. Multiple congenital deformities were noted. The face was dysmorphic with a prominent premaxilla. There was hypertelorism and the eyes sloped downwards with narrow palpebral fissures. The jaw was small with a thin upper lip. The palate was high and arched and the uvula appeared rotated forwards and fixed to the palate. There was excess skin around the neck and back. The arms were short, with flexion deformity at the wrist and radial deviation. The hands appeared short and stubby and the fingers were clubbed. As the child grew older, generalised joint laxity and hyperextensibility developed. Height and weight remained on the third percentile for age but head circumference was above the 98th percentile, with an enlarged pituitary fossa on skull radiographs. Motor development was delayed but normal intelligence was apparent. Kyphoscoliosis was treated with a brace and eventually spinal fusion. The chest deformity led to a restrictive ventilatory defect and recurrent chest infections. The permanent teeth were all lost soon after eruption. At the age of 15 years, delayed puberty was apparent with prepubertal serum levels of LH, FSH and oestradiol and a bone age of only 12 years.