A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients

[1] Superti-Furga A(2007)Nosology and classification of genetic skeletal disorders: 2006 revision Am J Med Genet 143A 1-18

[2] Unger S(2002)International nosology and classification of constitutional disorders of bone (2001) Am J Med Genet 113 65-77

[3] Hall CM(1998)A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations J Med Genet 35 566-572

[4] Hall CM(2003)Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: clinical course and phenotypic variations in four patients Am J Med Genet 117A 147-153

[5] Elcioglu H(2002)Spondyloepimetaphyeal dysplasia with multiple dislocations (Hall type): three further cases and evidence of autosomal dominant inheritance J Med Genet 39 666-670

[6] Shaw DG(2007)Persistent upper airway obstruction is a diagnostic feature of spondyloepimetaphyseal dysplasiawith multiple dislocations (Hall type) with further evidence for dominant inheritance Am J Med Genet 143A 2024-2028

[7] Nishimura G(1999)Spondyloepimetaphyseal dysplasiawith joint laxity (SEMDJL): presentation in two unrelated patients in the United States Am J Med Genet 86 245-252

[8] Honma T(2003)Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type: report of a new patient and review of the literature Am J Med Genet 122A 252-256

[9] Shiihara T(1997)Sponastrime dysplasia: diagnostic criteria based on five new and six previously published cases Pediatr Radiol 27 409-414

[10] Hall CM(2000)SPONASTRIME dysplasia: report of an 11-year-old boy and review of the literature Am J Med Genet 92 33-39

[1] Superti-Furga A(2007)Nosology and classification of genetic skeletal disorders: 2006 revision Am J Med Genet 143A 1-18

[2] Unger S(2002)International nosology and classification of constitutional disorders of bone (2001) Am J Med Genet 113 65-77

[3] Hall CM(1998)A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations J Med Genet 35 566-572

[4] Hall CM(2003)Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: clinical course and phenotypic variations in four patients Am J Med Genet 117A 147-153

[5] Elcioglu H(2002)Spondyloepimetaphyeal dysplasia with multiple dislocations (Hall type): three further cases and evidence of autosomal dominant inheritance J Med Genet 39 666-670

[6] Shaw DG(2007)Persistent upper airway obstruction is a diagnostic feature of spondyloepimetaphyseal dysplasiawith multiple dislocations (Hall type) with further evidence for dominant inheritance Am J Med Genet 143A 2024-2028

[7] Nishimura G(1999)Spondyloepimetaphyseal dysplasiawith joint laxity (SEMDJL): presentation in two unrelated patients in the United States Am J Med Genet 86 245-252

[8] Honma T(2003)Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type: report of a new patient and review of the literature Am J Med Genet 122A 252-256

[9] Shiihara T(1997)Sponastrime dysplasia: diagnostic criteria based on five new and six previously published cases Pediatr Radiol 27 409-414

[10] Hall CM(2000)SPONASTRIME dysplasia: report of an 11-year-old boy and review of the literature Am J Med Genet 92 33-39