Literature DB >> 10826618

Congenital bowing of the long bones associated with camptodactyly, talipes equinovarus and agenesis of the corpus callosum.

L I Al-Gazali1, M Bakir, Z M Hamid, R Nath, D Haas.   

Abstract

We report a baby with congenital bowing of the long bones, camptodactyly, talipes equinovarus and radiological features resembling both Stüve-Wiedemann syndrome and Schwartz-Jampel syndrome type 2. The baby had, in addition, agenesis of the corpus callosum. This feature has not been reported in either of these syndromes. It is possible that this baby has a previously undescribed syndrome.

Entities:  

Mesh:

Year:  2000        PMID: 10826618     DOI: 10.1097/00019605-200009020-00003

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


  2 in total

1.  Craniocervical CT and MR imaging of Schwartz-Jampel syndrome.

Authors:  Sarah S Samimi; Walter S Lesley
Journal:  AJNR Am J Neuroradiol       Date:  2003-09       Impact factor: 3.825

Review 2.  Clinical overview and outcome of the Stuve-Wiedemann syndrome: a systematic review.

Authors:  Hélène Warnier; Christophe Barrea; Sarah Bethlen; Isabelle Schrouff; Julie Harvengt
Journal:  Orphanet J Rare Dis       Date:  2022-04-23       Impact factor: 4.303

  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.