Mesomelic dysplasia with absence of fibulae and hexadactyly: Nievergelt syndrome or new syndrome?
Mesomelic dysplasia is a form of short-limb dwarfism characterized by disproportionate shortness of the middle segment of all limbs. Included in this category of skeletal disorders is the Nievergelt syndrome, which typically manifests a rhomboidal shape of the tibiae and fibulae, an unusual foot deformity, radioulnar synostosis, and dysplasia of the elbow and knee joints. We describe a patient with mesomelic dysplasia with findings suggestive of the Nievergelt syndrome and with absence of fibulae and hexadactyly.
Petrella
R
R
Department of Pediatrics, Mount Sinai School of Medicine, New York, New York 10029.
Ludman
M D
MD
Rabinowitz
J G
JG
Gilbert
F
F
Hirschhorn
K
K
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D004392:Dwarfism / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D005360:Fibula / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D008297:Male; D011859:Radiography; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*