Pyle-type metaphyseal dysplasia(2)

Thursday, 06 Aug 2009 18:17:33 GMT

A 3-year-old girl came to the radiology department from the genetics clinic, where she was referred because of widening of the bonesin her legs. There was concern that other bones were involved. The patient was delivered by spontaneous vaginal delivery at term, after an uneventful pregnancy and weighed 6 pounds, 12 ounces.

She had a history of genu valgum, which was noticed at 13 months of age. Her prior medical and surgical histories were not significant. There was no history of bony fractures, hip dislocation or mental retardation.

She had a maternal half-sister who was 12 years old and healthy and the patient also had a younger 2-year-old full sister who had started to show the same signs of widening of the leg bones and genu valgum.

There was no history of consanguinity. Her developmental history was also within normal limits.

Physical examination revealed her weight to be slightly beneath the 50th percentile and her height was just above the 50th percentile.

She had no facial dysmorphism, with no obvious clinodactyly, polydactyly or syndactyly. No dental caries were noted. There was noevidence of scoliosis or platyspondyly.

RSS Feed on Applied Radiology

Pyle-type metaphyseal dysplasia(2)