Al-Awadi/Raas-Rothschild syndrome in a newborn with additional anomalies

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dc.contributor.authorAlp, E.
dc.contributor.authorAlp, H.
dc.contributor.authorAtabek, M. E.
dc.contributor.authorPirgon, Ö.
dc.date.accessioned2020-03-26T18:05:56Z
dc.date.available2020-03-26T18:05:56Z
dc.date.issued2010
dc.departmentSelçuk Üniversitesien_US
dc.description.abstractAl-Awadi/Raas-Rothschild (AARR) syndrome is a rare phocomelia syndrome characterized by limb/pelvic hypoplasia/aplasia, renal anomalies such as horseshoe and polycystic kidney, and abnormal facial features including cleft palate, hypertelorism and micro-retrognatia. Autosomal recessive inheritance has been proposed for AARR syndrome. In this report a boy affected with AARR syndrome is presented. The previous pregnancy of the mother was terminated because of lower limb agenesis detected at 14 th week of gestation. This report emphasizes the importance of recognizing severe pelvic and limb deficiencies in newborns with AARR syndrome and differentiating the syndrome from other multiple malformation syndromes. Fetal ultrasonography at 15 th week of gestation is helpful in diagnosing the major extremity anomalies in the fetus. © Journal of Clinical Research in Pediatric Endocrinology, Published by Galenos Publishing.en_US
dc.identifier.doi10.4274/jcrpe.v2i1.49en_US
dc.identifier.endpage51en_US
dc.identifier.issn1308-5727en_US
dc.identifier.issue1en_US
dc.identifier.pmid21274338en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage49en_US
dc.identifier.urihttps://dx.doi.org/10.4274/jcrpe.v2i1.49
dc.identifier.urihttps://hdl.handle.net/20.500.12395/25578
dc.identifier.volume2en_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.relation.ispartofJCRPE Journal of Clinical Research in Pediatric Endocrinologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.selcuk20240510_oaigen_US
dc.subjectAl-Awadi/Raas-Rothschild syndromeen_US
dc.subjectPelvic agenesisen_US
dc.subjectPhocomeliaen_US
dc.titleAl-Awadi/Raas-Rothschild syndrome in a newborn with additional anomaliesen_US
dc.typeArticleen_US

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