Literature DB >> 29263747

Spondylocarpotarsal synostosis syndrome. A rare case of short stature and congenital scoliosis.

Swayamsidha Mangaraj1, Arun Kumar Choudhury1, Mamata Singh2, Debasish Patro1, Anoj Kumar Baliarsinha1.   

Abstract

Spondylocarpotarsal synostosis is a very rare skeletal disorder characterized by vertebral malsegmentation defects. Apart from severe vertebral defects, the disease is associated with carpal and tarsal synostosis which is quite characteristic for the disease. We report a case of young child who presented with short stature and congenital scoliosis. The radiological and clinical findings were compatible with the above diagnosis. Apart from the classical findings, the patient had evidence of odontoid aplasia which has not earlier been described in association with this disorder. We report this case for rarity of this disorder and the associated novel finding.

Entities:  

Keywords:  carpal fusion; odontoid aplasia; skeletal dysplasia; spondylocarpotarsal synostosis; tarsal fusion

Year:  2017        PMID: 29263747      PMCID: PMC5726223          DOI: 10.11138/ccmbm/2017.14.2.258

Source DB:  PubMed          Journal:  Clin Cases Miner Bone Metab        ISSN: 1724-8914


  12 in total

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Journal:  Am J Med Genet A       Date:  2008-06-15       Impact factor: 2.802

5.  Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.

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Journal:  Nat Genet       Date:  2004-02-29       Impact factor: 38.330

6.  A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14.

Authors:  C Steiner; N Ehtesham; K D Taylor; E Sebald; R Cantor; L M King; X Guo; T Hang; M S Hu; J-R Cui; B Friedman; D Norato; J Allanson; C Honeywell; G Mettler; F Field; R Lachman; D H Cohn; D Krakow
Journal:  J Med Genet       Date:  2004-04       Impact factor: 6.318

7.  Expanded clinical spectrum of spondylocarpotarsal synostosis syndrome and possible manifestation in a heterozygous father.

Authors:  Diana Mitter; Deborah Krakow; Claire Farrington-Rock; Peter Meinecke
Journal:  Am J Med Genet A       Date:  2008-03-15       Impact factor: 2.802

Review 8.  Embryology and bony malformations of the craniovertebral junction.

Authors:  Dachling Pang; Dominic N P Thompson
Journal:  Childs Nerv Syst       Date:  2010-12-31       Impact factor: 1.475

9.  Atlanto-axial rotatory fixation in a girl with Spondylocarpotarsal synostosis syndrome.

Authors:  Ali Al Kaissi; Farid Ben Chehida; Hassan Gharbi; Maher Ben Ghachem; Franz Grill; Klaus Klaushofer
Journal:  Scoliosis       Date:  2006-10-16

10.  TGFβ and BMP Dependent Cell Fate Changes Due to Loss of Filamin B Produces Disc Degeneration and Progressive Vertebral Fusions.

Authors:  Jennifer Zieba; Kimberly Nicole Forlenza; Jagteshwar Singh Khatra; Anna Sarukhanov; Ivan Duran; Diana Rigueur; Karen M Lyons; Daniel H Cohn; Amy E Merrill; Deborah Krakow
Journal:  PLoS Genet       Date:  2016-03-28       Impact factor: 5.917

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  2 in total

1.  Intervertebral disc degeneration is rescued by TGFβ/BMP signaling modulation in an ex vivo filamin B mouse model.

Authors:  Jennifer Zieba; Kimberly N Forlenza; Kelly Heard; Jorge H Martin; Michaela Bosakova; Daniel H Cohn; Stephen P Robertson; Pavel Krejci; Deborah Krakow
Journal:  Bone Res       Date:  2022-04-26       Impact factor: 13.362

2.  Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant: a case report.

Authors:  Samina Yasin; Outi Makitie; Sadaf Naz
Journal:  BMC Musculoskelet Disord       Date:  2021-01-06       Impact factor: 2.362

  2 in total

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