Abstract

Carpenter syndrome (MIM 201000) is a rare autosomal recessive disorder characterized by combination of acrocephaly, syndactyly and brachydactyly in the hands as well as syndactyly and preaxial polydactyly of the toes. Other variable features can be present. 100 patients have been reported until now, with 14 mutations in the conserved sequence encoding the ras-like in rat brain 23 (RAB23) gen identified. We report here two Moroccan cases with a typical clinical picture of carpenter syndrome.

Full Text
Paper version not known

Talk to us

Join us for a 30 min session where you can share your feedback and ask us any queries you have

Schedule a call

Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.