Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: Clinical course and phenotypic variations in four patients
| Autor: | Takashi Shiihara, Masanori Adachi, Gen Nishimura, Shiro Ikegawa, Makoto Mikawa, Eiji Nakajima, Noriyo Manabe, Tomomi Honma, Yoshimitsu Fukushima |
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| Rok vydání: | 2002 |
| Předmět: |
Adult
Joint Instability Male musculoskeletal diseases Spondyloepiphyseal dysplasia Knee Joint Osteochondrodysplasias Bone and Bones Joint laxity Genu Valgum Finger Joint Genetics medicine Humans Genetics (clinical) Spondyloepimetaphyseal dysplasia Generalized joint laxity business.industry Anatomy medicine.disease Osteochondrodysplasia Radiography Dysplasia Hip subluxation Child Preschool Female business |
| Zdroj: | American Journal of Medical Genetics Part A. :147-153 |
| ISSN: | 1552-4825 |
| DOI: | 10.1002/ajmg.a.10927 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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