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Orthopaedics Miscellaneous f1663603

All of the following are features of pyle disease except-

A
It is an autosomal recessive disease
B
It is an epiphyseal dysplasia
C
Mental retardation is uncommon
D
Dental caries and mandibular prognathism
High-Yield Explanation
Ans. is 'b' i.e., It is an epiphyseal dysplasia Pyle's diseaseo Metaphyseal dysplasia, also known as Pyle's disease, Pyle's syndrome, Pyle-Cohn syndrome, and Bakwin-Krida syndrome is a rare disease in which the outer part of the shafts of long bones is thinner than normal and there is an increased chance of fractures.Clinical featureso It is an autosomal recessive disorder in which mild clinical manifestations contrast with radiological appearances of gross metaphyseal undermodeling. Most patients present with mild genu valgum. The elbows are unable to extend fully. There may be widening of the lower femora and clavicles. Bones can sometimes be fragile, but fracturing is usually not common. Patients may present with dental caries, mandibular prognathism, spinal alignment, and disproportionate limb lengthening. Mental development, physical development, and height are usually normal.Treatmento People with Pyle disease are often asymptomatic. Dental anomalies may require orthodontic interventions. Skeletal anomalies may require orthopedic surgery.

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