Sponastrime dysplasia: presentation in infancy

Offiah, A.C.

doi:10.1136/jmg.38.12.889

Cited by 9 publications

(11 citation statements)

References 20 publications

(23 reference statements)

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“…However, severe epiphyseal involvement and diagnostic appearances in the hands in SEMDJL-leptodactylic type patients can aid in the distinction of the former from the latter disorder. Radiological finding of the spine is also different; the SEMDJLleptodactylic type shows only mild platyspondyly in contrast to sponastrime dysplasia that shows more severe platyspondyly with biconcave vertebral end plates [9][10][11]. The inheritance pattern of SEMDJL-leptodactylic type occurs by autosomal dominant trait or sporadically in contrast to sponastrime dysplasia, which is inherited only as an autosomal recessive disorder.…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2009

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Objective This study presents seven cases of a rare but distinctive form of spondyloepimetaphyseal dysplasia with joint laxity-leptodactylic or Hall type to emphasize the characteristic clinical and radiological findings. Materials and methods A multiinstitutional retrospective review was performed on seven patients. The patient population consisted of one family with an affected mother and two siblings and four unrelated patients; there were one adult, aged 40 years, and six children, ranging in age from 3 to 12 years. The gender ratio of females to males was 5 to 2. We reviewed the clinical data and skeletal surveys and focused on radiographs of the pelvis, knees, hands, and spine.Results The outstanding clinical features were short stature, midface hypoplasia, and multiple dislocations and/or ligamentous laxity of the large joints, particularly at the knees with a genu valgum or varum deformity. Of seven patients, six patients showed normal intellect but one patient had mild mental retardation. The main radiological features included small, irregular epiphyses, metaphyseal irregularity with vertical striations that was a constant finding at the knees, constricted femoral necks, delayed ossification of the carpal bones, and slender metacarpals. Progressive thoracolumbar scoliosis was evident with aging; however, the vertebral bodies appeared normal in height or mild platyspondyly was noted.

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Section: Discussionmentioning

confidence: 99%

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

et al. 2009

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“…Short dental roots were noted in 3/3 patients previously diagnosed with SD. This very unusual Langer et al, 1996] Patient 2 [case 4; Langer et al, 1996] Patient 3 [Cooper et al, 2000] Patient 4 [Slaney et al, 1999;Offiah et al, 2001] Patient 5 [Chapman et al, 1990;Shaw, 1995] Patient 6 [Daley et al, 1996] Short stature abnormality should be looked for in patients with SD, and dentists and orthodontists should be made aware of it. Hypogammaglobulinemia was noted in two patients previously diagnosed with SD.…”

Section: Resultsmentioning

confidence: 99%

“…Hypogammaglobulinemia was present in both cases, however ivIG was required only in case 4. Another case, originally reported as novel SEMD with hypogammaglobulinemia [Slaney et al, 1999] has since been diagnosed with SD [Offiah et al, 2001]. One of our patients developed bilateral posterior subcapsular cataracts at age 11.…”

Section: Sponastrime Dysplasia (Sd) (Omim#271510)mentioning

confidence: 91%

“…This patient was later diagnosed with SD [Offiah et al, 2001]. At age 6 months, she had low levels of IgG, including IgG subclasses 1, 2, 3, and 4; and very low antibodies to tetanus and hemophilus influenza type B vaccine.…”

Section: Additional Findingsmentioning

confidence: 95%

“…At age 6 months, she had low levels of IgG, including IgG subclasses 1, 2, 3, and 4; and very low antibodies to tetanus and hemophilus influenza type B vaccine. The IgG levels had increased at age 2 years, and the hypogammaglobulinemia was described as ''transient'' in the follow up report [Offiah et al, 2001]. Her physical and radiographic findings were typical for SD.…”

Section: Additional Findingsmentioning

confidence: 95%

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Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataracts

Gripp

Johnson

Scott

et al. 2008

American J of Med Genetics Pt A

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SPONASTRIME dysplasia (SD) is an autosomal recessive skeletal dysplasia of the spondyloepimetaphyseal dysplasia (SEMD) type. The name was derived from "spondylar and nasal alterations with striated metaphyses" [Fanconi et al. 1983; Helv Paediat Acta 38: 267-280]. We follow two previously reported patients with SD [Patients 3, 4 in Langer et al. 1996; Am J Med Genet 63: 20-27]. Since the original publication, additional findings were identified in these patients.

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Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type: Report of a new patient and review of the literature

Mégarbané¹,

Ghanem

Merrer

2003

American J of Med Genetics Pt A

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A 6-year-old boy with congenital hip dislocation, developmental delay, short stature, macrocephaly, low set ears, short neck, and hyperlaxity of the wrists and fingers is described. Radiographs disclosed mainly the presence of thoracic scoliosis, narrow interpedicular distances, metaphyseal vertical striations, very small irregular epiphyses, right hip dislocation, luxation of both elbows, and severe delay of ossification of the epiphyses and the carpal bones. These features are very close to the newly described entity: spondyloepimetaphyseal dysplasia and multiple dislocations. This patient brings to light the differential diagnosis and confirms the specificity of the radiological findings of this new entity.

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Sponastrime dysplasia: presentation in infancy

Cited by 9 publications

References 20 publications

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

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

Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataracts

Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type: Report of a new patient and review of the literature

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