Literature DB >> 31175114

Tarsal-carpal coalition syndrome: importance of early diagnosis.

Gloria Tze Yan Lau1, Gayatri Athalye-Jape1, Natasha Amery1.   

Abstract

Tarsal-carpal coalition syndrome is a progressive condition involving synostosis of the wrist, ankle and digits. We describe a mother and her newborn that have this rare inherited condition where the diagnosis was made only after the baby's birth. The baby's condition was suspected on antenatal scanning, and he was born with reduced range of motion of his digits, elbows and ankles. The mother's condition has progressed to involve a fixed flexion deformity of her bilateral elbows, synostoses of her second to fifth digits and extensive coalition of her tarsal and carpal bones. She has required regular osteotomies to improve limb functioning and quality of life. © BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ.

Entities:  

Keywords:  calcium and bone; congenital disorders; genetics

Mesh:

Substances:

Year:  2019        PMID: 31175114      PMCID: PMC6557331          DOI: 10.1136/bcr-2019-229391

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  7 in total

1.  A novel NOG mutation Pro37Arg in a family with tarsal and carpal synostoses.

Authors:  P Debeer; J-P Fryns; K Devriendt; E Baten; C Huysmans; W J M Van de Ven
Journal:  Am J Med Genet A       Date:  2004-08-01       Impact factor: 2.802

2.  Resection for symptomatic talocalcaneal coalition.

Authors:  T K Comfort; L O Johnson
Journal:  J Pediatr Orthop       Date:  1998 May-Jun       Impact factor: 2.324

3.  Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis.

Authors:  Y Gong; D Krakow; J Marcelino; D Wilkin; D Chitayat; R Babul-Hirji; L Hudgins; C W Cremers; F P Cremers; H G Brunner; K Reinker; D L Rimoin; D H Cohn; F R Goodman; W Reardon; M Patton; C A Francomano; M L Warman
Journal:  Nat Genet       Date:  1999-03       Impact factor: 38.330

4.  Carpal and tarsal synostoses and transverse reduction defects of the toes in two brothers heterozygous for a double de novo NOGGIN mutation.

Authors:  Philippe Debeer; Christel Huysmans; Wim J M Van de Ven; Jean-Pierre Fryns; Koen Devriendt
Journal:  Am J Med Genet A       Date:  2005-04-30       Impact factor: 2.802

5.  Tarsal and carpal coalition and symphalangism of the Fuhrmann type. Report of a family.

Authors:  J P Drawbert; D B Stevens; R G Cadle; B D Hall
Journal:  J Bone Joint Surg Am       Date:  1985-07       Impact factor: 5.284

6.  Tarsal-carpal coalition syndrome: Report of a novel missense mutation in NOG gene and phenotypic delineation.

Authors:  Aneek Das Bhowmik; Vijayalakshmi Salem Ramakumaran; Ashwin Dalal
Journal:  Am J Med Genet A       Date:  2017-11-21       Impact factor: 2.802

7.  Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism.

Authors:  M E Dixon; P Armstrong; D B Stevens; M Bamshad
Journal:  Genet Med       Date:  2001 Sep-Oct       Impact factor: 8.822

  7 in total

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