Citation, DOI, disclosures and article data
Citation:
Weerakkody Y, Murphy A, Skandhan A, et al. Carpenter syndrome. Reference article, Radiopaedia.org (Accessed on 26 Mar 2025) https://doi.org/10.53347/rID-13200
Carpenter syndrome, also called acrocephalopolysyndactyly type II (ACPS type II) is an extremely rare autosomal recessive congenital disorder.
It is characterized by a number of features which include:
History and etymology
It was first described by G Carpenter in 1909 2.
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1. Hidestrand P, Vasconez H, Cottrill C. Carpenter syndrome. J Craniofac Surg. 2009;20 (1): 254-6. doi:10.1097/SCS.0b013e318184357a - Pubmed citation
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2. Carpenter G. Acrocephaly, with other Congenital Malformations-Autopsy. Proc. R. Soc. Med. 1909;2 (Sect Study Dis Child): 199-201. - Free text at pubmed - Pubmed citation
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3. Taravath S, Tonsgard JH. Cerebral malformations in Carpenter syndrome. Pediatr. Neurol. 9 (3): 230-4. - Pubmed citation
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4. Tarhan E, Oğuz H, Safak MA et-al. The carpenter syndrome phenotype. Int. J. Pediatr. Otorhinolaryngol. 2004;68 (3): 353-7. - Pubmed citation
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5. Ramos JM, Davis GJ, Hunsaker JC et-al. Sudden death in a child with Carpenter Syndrome. Case report and literature review. Forensic Sci Med Pathol. 2009;5 (4): 313-7. doi:10.1007/s12024-009-9128-2 - Pubmed citation
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6. Cohen DM, Green JG, Miller J et-al. Acrocephalopolysyndactyly type II--Carpenter syndrome: clinical spectrum and an attempt at unification with Goodman and Summit syndromes. Am. J. Med. Genet. 1987;28 (2): 311-24. doi:10.1002/ajmg.1320280208 - Pubmed citation
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7. Schumacher R, Seaver LH, Spranger J. Fetal Radiology. Springer Science & Business Media. (2013) ISBN:3662053748. Read it at Google Books - Find it at Amazon
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