Nemaline myopathy: a report of two siblings as evidence of autosomal recessive inheritance of the infantile type.

We report two opposite-sex siblings with the severe infantile form of nemaline myopathy; diagnoses were made on muscle biopsy. Neither parent showed clinical or electromyographic evidence of myopathy, and both had negative muscle biopsies. Autosomal recessive inheritance seems likely.

Conservative management of the Kasabach-Merritt syndrome (cavernous haemangioma and thrombocytopenia).

Two neonates with the Kasabach-Merritt syndrome (cavernous haemangioma and spontaneous bleeding) are described. The first bled into a rapidly growing cervical haemangioma. A consumptive coagulopathy was found, and he required blood transfusions; no response to steroids was observed. Further treatment was conservative, and at the age of 2 years he is well and the haemangioma is shrinking. The second infant had a strawberry naevus on the thigh which started bleeding when he was 10 days old, a buttock mass and a mass in the foot, thought to be lipomas. No clear benefit was derived from steroids. Bandaging of the thigh prevented further bleeding, and he is well at the age of 10 months. Conservative management seems best in the condition, and steroids appear to be of value in approximately 40% of cases.

Brachydactyly type E: A report of a family.

A family with dominantly inherited short stature, short broad hands and feet, normal facial appearance and normal intelligence is described. Radiographs demonstrated features of brachydactyly type E. A differential diagnosis of brachydactyly is given.