Bilateral hereditary micro-epiphyseal dysplasia: further delineation of the phenotype with 40 years follow-up.
Bilateral hereditary micro-epiphyseal dysplasia (BHMED) is a distinct skeletal dysplasia with specific clinical and radiological findings. It was first published in 1959. We have re-examined the original family for further delineation of the phenotype.
Mostert
A K
AK
Isala Clinics, Location Weezenlanden, Department of Orthopaedic Surgery, P.O. Box 10500, 8000 GM Zwolle, The Netherlands.
Jansen
B R H
BR
Dijkstra
P F
PF
Wesby-van Swaay
E
E
van Horn
J R
JR
Heutink
P
P
Lindhout
D
D
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011859:Radiography; D013997:Time Factors