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: Gen Nishimura, Tomomi Honma, Takashi Shiihara, Noriyo Manabe, Eiji Nakajima, Masanori Adachi, Makoto Mikawa, Yoshimitsu Fukushima, Shiro Ikegawa
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 117A Issue 2 Pg. 147-53 (Mar 01 2003) ISSN: 1552-4825 [Print] United States
• PMID: 12567412 (Publication Type: Journal Article)
• Copyright: Copyright 2002 Wiley-Liss, Inc.

Topics

• Adult
• Bone and Bones (diagnostic imaging)
• Child, Preschool
• Female
• Finger Joint (diagnostic imaging)
• Humans
• Joint Instability (pathology)
• Knee Joint (diagnostic imaging)
• Male
• Osteochondrodysplasias (pathology)
• Radiography