title: Bilateral hereditary micro-epiphyseal dysplasia: further delineation of the phenotype with 40 years follow-up.
abstract: 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.
authors.affiliation: Isala Clinics, Location Weezenlanden, Department of Orthopaedic Surgery, P.O. Box 10500, 8000 GM Zwolle, The Netherlands.
authors.forename: A K
authors.initials: AK
authors.lastname: Mostert
authors.forename: B R H
authors.initials: BR
authors.lastname: Jansen
authors.forename: P F
authors.initials: PF
authors.lastname: Dijkstra
authors.forename: E
authors.initials: E
authors.lastname: Wesby-van Swaay
authors.forename: J R
authors.initials: JR
authors.lastname: van Horn
authors.forename: P
authors.initials: P
authors.lastname: Heutink
authors.forename: D
authors.initials: D
authors.lastname: Lindhout
mesh_terms: 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