Bilateral radial ray hypoplasia with multiple epiphyseal dysplasia.
We describe a 5-4/12-year-old girl with the unique combination of bilateral radial ray hypoplasia and multiple epiphyseal dysplasia (MED). Radial ray hypoplasia was diagnosed at birth. MED was documented at age 4-3/12 years when she presented with leg pain and short stature and was found to have femoral anteversion and tibial torsion giving rise to severe genu valgum deformity and intoeing. She has no facial anomalies and is developmentally normal. Family history is unremarkable and chromosomal analysis was normal. Investigation of mineral metabolism showed idiopathic hypercalciuria. Surgical lengthening of her severely hypoplastic left radius at age 19 months was successful. Bilateral femoral and tibial osteotomies at age 5-4/12 years corrected her lower limb deformities. This combination of two distinctive but rare skeletal abnormalities may represent a new syndrome.
Eddy
M C
MC
Metabolic Research Unit, Shriners Hospital for Children, St. Louis, Missouri 63131, USA.
Steiner
R D
RD
McAlister
W H
WH
Whyte
M P
MP
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics; D001827:Body Height; D001851:Bone Diseases, Metabolic; D002675:Child, Preschool; D004838:Epiphyses / Q000002:abnormalities / Q000000981:diagnostic imaging; D005260:Female; D005269:Femur / Q000002:abnormalities / Q000000981:diagnostic imaging; D006226:Hand Deformities / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics; D011859:Radiography; D011884:Radius / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013977:Tibia / Q000002:abnormalities / Q000000981:diagnostic imaging