title: Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: clinical course and phenotypic variations in four patients.
abstract: We describe a 5-year-old boy and a 33-year-old woman with spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form (spondyloepimetaphyseal dysplasia with multiple dislocations) (MIM 6003546), and two 12-year-old girls with the disorder who were previously reported as examples of a variant of sponatrime dysplasia. Their clinical manifestations included midface hypoplasia, micromelic short stature, and generalized joint laxity that caused multiple joint problems, including thoracolumbar scoliosis, hip subluxation, progressive genu valgum with knee and patellar subluxation, elbow subluxation, and malalignment of the wrist. Laryngotracheomalacia was present in two individuals, and myopathy was noted in one. The radiological findings in the four individuals included mild platyspondyly most conspicuous in infancy, narrow interpediculate distances of the lumbar spine evident in infancy, retarded epiphyseal ossification that evolved to epiphyseal dysplasia and later to degenerative joint disease, metaphyseal irregularities and striations present in early childhood, and leptodactylic appearance (slender short tubular bones) of the hand.
authors.affiliation: Japanese Consortium for Skeletal Dysplasia, Tokyo, Japan. gen-n@pc4.so-net.ne.jp
authors.forename: Gen
authors.initials: G
authors.lastname: Nishimura
authors.forename: Tomomi
authors.initials: T
authors.lastname: Honma
authors.forename: Takashi
authors.initials: T
authors.lastname: Shiihara
authors.forename: Noriyo
authors.initials: N
authors.lastname: Manabe
authors.forename: Eiji
authors.initials: E
authors.lastname: Nakajima
authors.forename: Masanori
authors.initials: M
authors.lastname: Adachi
authors.forename: Makoto
authors.initials: M
authors.lastname: Mikawa
authors.forename: Yoshimitsu
authors.initials: Y
authors.lastname: Fukushima
authors.forename: Shiro
authors.initials: S
authors.lastname: Ikegawa
mesh_terms: D000328:Adult; D001842:Bone and Bones / Q000000981:diagnostic imaging; D002675:Child, Preschool; D005260:Female; D005384:Finger Joint / Q000000981:diagnostic imaging; D006801:Humans; D007593:Joint Instability / Q000473:pathology*; D007719:Knee Joint / Q000000981:diagnostic imaging; D008297:Male; D010009:Osteochondrodysplasias / Q000473:pathology*; D011859:Radiography