Cousin–Walbraum–Cegarra syndrome is a rare genetic and congenital disorder which consists of facial dysmorphia, congenital dwarfism, pelvic and scapular dysplasia, and growth plate abnormalities.[1] In March 1982, medical literature described the case of a North African sister and brother from healthy consanguineous parents (first cousins in this case), both having the same symptoms, it was suggested that this disorder was inherited in an autosomal recessive fashion. Since then, only 10 cases have been reported in medical literature.[2][3][4][5]
cousin, walbraum, cegarra, syndrome, rare, genetic, congenital, disorder, which, consists, facial, dysmorphia, congenital, dwarfism, pelvic, scapular, dysplasia, growth, plate, abnormalities, march, 1982, medical, literature, described, case, north, african, s. Cousin Walbraum Cegarra syndrome is a rare genetic and congenital disorder which consists of facial dysmorphia congenital dwarfism pelvic and scapular dysplasia and growth plate abnormalities 1 In March 1982 medical literature described the case of a North African sister and brother from healthy consanguineous parents first cousins in this case both having the same symptoms it was suggested that this disorder was inherited in an autosomal recessive fashion Since then only 10 cases have been reported in medical literature 2 3 4 5 Cousin Walbraum Cegarra syndromeSpecialtyMedical geneticsSymptomsFacial dysmorphia congenital dwarfism hip dysplasiaUsual onsetcongenitalCausesGenetic mutationDiagnostic methodDNA sequencingFrequencyVery rare only ten cases have been reported in medical literatureReferences edit Orphanet Sindrome de Cousin Walbraum Cegarra Cousin J Walbaum R Cegarra P Huguet J Louis J Pauli A Fournier A Fontaine G 1982 Familial pelvi scapulary dysplasia with anomalies of the epiphyses dwarfism and dysmorphy A new syndrome Author s transl Archives Francaises de Pediatrie 39 3 173 175 PMID 7103674 Cousin Walbaum Cegarra Syndrome Syndromes Rapid Recognition and Perioperative Implications McGraw Hill Education 2019 Cousin Walbaum Cegarra Syndrome Syndromes Rapid Recognition and Perioperative Implications The McGraw Hill Companies 2006 Cousin Walbraum Cegarra syndrome CheckOrphan 31 December 2014 nbsp This genetic disorder article is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title Cousin Walbraum Cegarra syndrome amp oldid 1207687997, wikipedia, wiki, book, books, library,
