Further delineation of spondylometaphyseal dysplasia with cone‐rod dystrophy

Sousa, Sérgio B.; Russell‐Eggitt, Isabelle; Hall, Christine; Hall, Bryan D.; Hennekam, Raoul C. M.

doi:10.1002/ajmg.a.32576

Cited by 9 publications

(23 citation statements)

References 30 publications

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“…The only significant phenotypic difference between our patient and those reported by Walters et al [2004] and Sousa et al [2008] was eye involvement. Patients in these two publications who had ophthalmologic examination in the first few years of life showed some retinal changes, later diagnosed as cone-rod dystrophy.…”

Section: Discussioncontrasting

confidence: 57%

“…Their phenotypic and radiographic features-apart from eye involvement-resemble most closely the patients of Walters et al [2004] and Sousa et al [2008]. The prenatal ultrasound of Patient 2 documented short long bones, which are the hallmark of a severe bone dysplasia.…”

Section: Discussionmentioning

confidence: 90%

“…However, the patients documented by Walters et al [2004] and Sousa et al [2008] also showed variable pelvic and hand involvement. The children reported by Duetting et al [2004] had less bowing of the long bones of the lower extremities and slightly different shape of the vertebral bodies.…”

Section: Discussionmentioning

confidence: 91%

“…A review of the SMD literature revealed four publications concerning patients similar to the siblings whom we have studied [Gustavson et al, 1978;Duetting et al, 1998;Walters et al, 2004;Sousa et al, 2008]. Analysis of these papers is hampered by absence of a babygram and first decade lateral spine radiographs in the article by Gustavson et al [1978].…”

Section: Discussionmentioning

confidence: 92%

“…Since this publication three additional papers with similar observations have been published [Duetting et al, 1998;Walters et al, 2004;Sousa et al, 2008]. Patients described in these articles resemble the siblings whom we have studied, therefore, we performed detailed analysis and comparison of all these affected individuals.…”

Section: Introductionmentioning

confidence: 93%

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Severe neonatal spondylometaphyseal dysplasia in two siblings

Czarny-Ratajczak

Chrzanowska

Biegański

et al. 2009

American J of Med Genetics Pt A

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We report on two siblings with a severe neonatal form of spondylometaphyseal dysplasia (SMD). Similar cases have been reported in four publications. Analysis of pedigree data from the original and present families suggests an autosomal recessive mode of inheritance, although parental gonadal mosaicism is also possible. The similarities in the phenotype between our patients and spondyloepimetaphyseal dysplasia congenita (SEMDC) and spondyloepimetaphyseal dysplasia Strudwick (SEMDS) type, indicated that these patients could have a defect in the COL2A1 gene. Molecular analysis of genomic DNA of these patients excluded this gene. Another potential candidate gene PTHR1, was also analyzed in the selected regions and no mutation was found. This gene is probably causative in the Jansen type of SMD, which shares some phenotypic features with the siblings whom we documented. Our results indicate that a new candidate gene for the reported form of SMD should be sought.

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Section: Discussioncontrasting

confidence: 57%

Section: Discussionmentioning

confidence: 90%

Section: Discussionmentioning

confidence: 91%

Section: Discussionmentioning

confidence: 92%

Section: Introductionmentioning

confidence: 93%

See 3 more Smart Citations

Severe neonatal spondylometaphyseal dysplasia in two siblings

Czarny-Ratajczak

Chrzanowska

Biegański

et al. 2009

American J of Med Genetics Pt A

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Spondylometaphyseal dysplasia with cone-rod dystrophy

et al. 2011

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The co-occurrence of skeletal dysplasia and ophthalmologic abnormality is extremely rare. We report on a boy of a unique form of spondylometaphyseal dysplasia associated with cone-rod dystrophy. He presented with postnatal severe short stature, progressive lower limb deformity with rhizomelic shortening of the long bones, prominent joints with limited mobility in knees and elbows, mild thoracic scoliosis, and vision impairment due to cone dystrophy. Correction of deformity and simultaneous limb lengthening was performed in bilateral femora and tibiae without major complications. Skeletal manifestations in addition to comprehensive ophthalmologic examinations were described in this patient who had been followed from infancy to 16 years of age.

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Axial spondylometaphyseal dysplasia: Additional reports

Suzuki

Kim

Makita

et al. 2011

American J of Med Genetics Pt A

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Axial spondylometaphyseal dysplasia (SMD) (OMIM 602271) is an uncommon skeletal dysplasia characterized by metaphyseal changes of truncal-juxtatruncal bones, including the proximal femora, and retinal abnormalities. The disorder has not attracted much attention since initially reported; however, it has been included in the nosology of genetic skeletal disorders [Warman et al. (2011); Am J Med Genet Part A 155A:943-968] in part because of a recent publication of two additional cases [Isidor et al. (2010); Am J Med Genet Part A 152A:1550-1554]. We report here on the clinical and radiological manifestations in seven affected individuals from five families (three sporadic cases and two familial cases). Based on our observations and Isidor's report, the clinical and radiological hallmarks of axial SMD can be defined: The main clinical findings are postnatal growth failure, rhizomelic short stature in early childhood evolving into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection. Impaired visual acuity comes to medical attention in early life and function rapidly deteriorates. Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on fundoscopic examination and cone-rod dystrophy on electroretinogram. The radiological hallmarks include short ribs with flared, cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities essentially confined to the proximal femora. Equally affected sibling pairs of opposite gender and parental consanguinity are strongly suggestive of autosomal recessive inheritance.

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Further delineation of spondylometaphyseal dysplasia with cone‐rod dystrophy

Cited by 9 publications

References 30 publications

Severe neonatal spondylometaphyseal dysplasia in two siblings

Severe neonatal spondylometaphyseal dysplasia in two siblings

Spondylometaphyseal dysplasia with cone-rod dystrophy

Axial spondylometaphyseal dysplasia: Additional reports

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