Pyle metaphyseal dysplasia.
Pyle type metaphyseal dysplasia is a rare autosomal recessive disease that primarily affects metaphyses. We report a 12 year old boy with Pyles disease. He had mild facial dysmorphism, genu valgum and wasting of legs. Skeletal radiology revealed the characteristic Erlenmeyer flask sign at distal femoral and proximal tibial metaphyses along with platyspondyly.
Gupta
Neerja
N
Genetic Subdivision, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110 029, India.
Kabra
Madhulika
M
Das
Chandan J
CJ
Gupta
Arun K
AK
D000015:Abnormalities, Multiple / Q000473:pathology*; D015519:Bone Density; D001848:Bone Diseases, Developmental / Q000473:pathology*; D002648:Child; D005269:Femur / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D011859:Radiography; D013977:Tibia / Q000002:abnormalities* / Q000000981:diagnostic imaging