Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: Clinical course and phenotypic variations in four patients

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 varia...

Full description

Saved in:
Bibliographic Details
Published in:American journal of medical genetics 2003-03, Vol.117A (2), p.147-153
Main Authors: Nishimura, Gen, Honma, Tomomi, Shiihara, Takashi, Manabe, Noriyo, Nakajima, Eiji, Adachi, Masanori, Mikawa, Makoto, Fukushima, Yoshimitsu, Ikegawa, Shiro
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Bone and Bones - diagnostic imaging
Child, Preschool
Diseases of the osteoarticular system
Female
Finger Joint - diagnostic imaging
Humans
Joint Instability - pathology
joint laxity
Knee Joint - diagnostic imaging
laryngotracheomalacia
Male
Malformations and congenital and or hereditary diseases involving bones. Joint deformations
Medical sciences
metaphyseal striations
myopathy
Osteochondrodysplasias - pathology
Radiography
spondyloepimetaphyseal dysplasia
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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. © 2002 Wiley‐Liss, Inc.
ISSN:1552-4825
0148-7299
1552-4833
1096-8628
DOI:10.1002/ajmg.a.10927