Turkiye Klinikleri J Med Sci 2011;31(2) 464 arpenter syndrome or acrocephalopolysyndactyly type II was first described by Carpenter in 1901, but it was not firmly established as an entity until Temtamy’s report in 1966. 1 It is a rare autosomal re- cessive disorder. 1,2 The cardinal features of this syndrome are acrocephaly with variable synostosis of the sagittal, lambdoid, and coronal sutures; pe- culiar facies; brachydactyly of hands with syndactyly; preaxial polidactyly and syndactyly of the feet; congenital heart defects; growth retardation; mental retardation; hypogenitalism and obesity. 1-5 Besides common clinical manifestations, cerebral malformations, oral and dental abnormalities, co- xa valga, genu valgum, hydronephrosis, precocious puberty and hearing loss may be seen. 1-12 Variable rare abnormalities may also accompany the major clinical findings. 1 However, to the best of our knowledge, situs inversus to- talis has not been demonstrated previously in Carpenter syndrome. We re- port a case of Carpenter syndrome associated with situs inversus totalis. The Association of Carpenter Syndrome and Situs Inversus Totalis: First Case Report ABSTRACT Carpenter syndrome (acrocephalopolysyndactyly type II) is a rare autosomal recessi- ve disorder that classically consists of acrocephaly, facial dysmorphism, mental retardation, conge- nital heart disease and hypogenitalism. To the best of our knowledge, situs inversus totalis has not been demonstrated previously in Carpenter syndrome. We report here a 6- day- old boy with many abnormalities diagnosed clinically and also having situs inversus totalis. As far as we know, this is the first Carpenter syndrome case associated with situs inversus totalis in the literature. Key Words: Situs inversus; craniosynostoses; mental retardation; craniofacial abnormalities; syndactyly ÖZET Carpenter sendromu (akrosefalopolisindaktili tip II) klasik olarak akrosefali, fasial dismor- fizm, zeka geriliği, doğumsal kalp hastalığı ve hipogenitalizmden oluşan nadir bir otozomal resesif hastalıktır. Bildiğimiz kadarıyla, Carpenter sendromunda daha once situs inversusu totalis tanım- lanmamıştır. Burada klinik olarak tanı koyulan pek çok anomalisi olan ve aynı zamanda situs inve- rus totalisi olan 6 günlük bir erkek bebeği sunuyoruz. Bildiğimiz kadarıyla, bu literatürde situs inversus totalis ile birlikte görülen ilk Carpenter sendromu olgusudur. Anahtar Kelimeler: Situs inversus; kranyosinostoz; mental retardasyon; kafa yüz anormallikleri; sindaktili Turkiye Klinikleri J Med Sci 2011;31(2):464-7 Hüseyin ALTUNHAN, MD, a Ali ANNAGÜR, MD, a Rahmi ÖRS, MD a a Division of Neonatology, Selçuk University Meram Faculty of Medicine, Konya Geliş Tarihi/Received: 15.06.2010 Kabul Tarihi/Accepted: 17.12.2010 Yazışma Adresi/Correspondence: Ali ANNAGÜR, MD Selçuk University Meram Faculty of Medicine, Division of Neonatology, Konya, TÜRKİYE/TURKEY aliannagur@yahoo.com doi:10.5336/medsci.2010-19822 Copyright © 2011 by Türkiye Klinikleri OLGU SUNUMU