Figure 1.

Examination shortly after birth (a,d) was notable for large anterior fontanelle, low-set ears, bilateral cortical cataracts, short nose with anteverted nares, micrognathia and short halluces. By five months of age (b,c,e,f) she had developed the additional findings of sparse hair, macrocephaly (Z=+5) and a tall, bossed, prominent forehead. Neonatal skeletal survey (g–m) showed osteopenia, permeative appearance of bone, gracile long bones, ‘handlebar’ clavicles, flared iliac wings, acetabular dysplasia, vertebral disc calcifications and hypoplasia of multiple bones in the hands and feet (first metacarpals and metatarsals, all distal phalanges, proximal phalanges of the thumbs and middle phalanges of fifth fingers). Also seen were healing fractures of the distal femora and proximal tibiae, and periosteal new bone formation of the long bones. Lumbar spine bone mineral density (BMD) was reduced (Z=−1.9). Pamidronate treatment improved the patient’s tachypnea, analgesia requirements and bone mineral density (Z=−0.25 at age five months). Shown are (g) anterio-posterior supine film; (h) right humerus; (i) left radius and ulna; (j) left hand; (k) left femur; (l) left tibia and fibula; (m) right foot.