Literature DB >> 12497228

Congenital distal humeral dysplasia: a case report.

Benjamin Joseph1, Renjit A Varghese.   

Abstract

Congenital dysplasia of the humerus is very rare. It is characteristically seen in omodysplasia and has also been reported as one of the associated features of Larsen's syndrome. We report a 4-year-old girl with bilateral humero-ulnar dysplasia, with dislocation of the elbows, facial dysmorphism, ball-and-socket ankles and foot deformities. Although the elbow dysplasia is similar to that seen in Larsen's syndrome, other pathognomic features of Larsen's syndrome were absent. The changes seen in the elbows in this patient are also different from those encountered in omodysplasia. We believe that this condition may be a distinct form of skeletal dysplasia hitherto undescribed.

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Year:  2002        PMID: 12497228     DOI: 10.1007/s00247-002-0660-4

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN: 0301-0449


  2 in total

Review 1.  Recessive omodysplasia: five new cases and review of the literature.

Authors:  Nursel H Elçioglu; Karl H Gustavson; Andrew O M Wilkie; Memune Yüksel-Apak; Jürgen W Spranger
Journal:  Pediatr Radiol       Date:  2003-10-18

2.  Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.

Authors:  Pia Hermanns; Sheila Unger; Antonio Rossi; Antonio Perez-Aytes; Hector Cortina; Luisa Bonafé; Loredana Boccone; Valeria Setzu; Michel Dutoit; Luca Sangiorgi; Fabio Pecora; Kerstin Reicherter; Gen Nishimura; Jürgen Spranger; Bernhard Zabel; Andrea Superti-Furga
Journal:  Am J Hum Genet       Date:  2008-06       Impact factor: 11.025

  2 in total

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