Characterized by preaxial polydactyly, soft tissue syndactyly, cardiac defects, ventral wall abnormalities, and craniosynostosis of multiple sutures
IMAGING
General Features
Ultrasonographic Findings
Radiographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Natural History & Prognosis
Treatment
Selected References
Dias MS et al: Identifying the misshapen head: craniosynostosis and related disorders. Pediatrics. 146(3), 2020
Hasan MR et al: RAB23 coordinates early osteogenesis by repressing FGF10-pERK1/2 and GLI1. Elife. 9, 2020
Lloyd DL et al: The Drosophila homologue of MEGF8 is essential for early development. Sci Rep. 8(1):8790, 2018
Rubio EI et al: Ultrasound and MR imaging findings in prenatal diagnosis of craniosynostosis syndromes. Pediatr Radiol. 46(5):709-18, 2016
Haye D et al: Prenatal findings in carpenter syndrome and a novel mutation in RAB23. Am J Med Genet A. 164A(11):2926-30, 2014
Kadakia S et al: Carpenter syndrome: a review for the craniofacial surgeon. J Craniofac Surg. 25(5):1653-7, 2014
Victorine AS et al: Prenatal diagnosis of Carpenter syndrome: looking beyond craniosynostosis and polysyndactyly. Am J Med Genet A. 164A(3):820-3, 2014
Bhardwaj M et al: Caesarean section in a parturient with Carpenter syndrome and corrected Tetralogy of Fallot. Int J Obstet Anesth. 22(3):251-4, 2013
Cohen MM Jr. Perspectives on craniosynostosis: sutural biology et al: J Craniofac Surg. 2009 Mar;20 Suppl 1:646-51. Erratum in: J Craniofac Surg. 20(5):1629-30, 2009
Hidestrand P et al: Carpenter syndrome. J Craniofac Surg. 20(1):254-6, 2009
Related Anatomy
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Related Differential Diagnoses
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
TERMINOLOGY
Synonyms
Acrocephalopolysyndactyly type II
CRPT-1 and -2
Definitions
Characterized by preaxial polydactyly, soft tissue syndactyly, cardiac defects, ventral wall abnormalities, and craniosynostosis of multiple sutures
IMAGING
General Features
Ultrasonographic Findings
Radiographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Natural History & Prognosis
Treatment
Selected References
Dias MS et al: Identifying the misshapen head: craniosynostosis and related disorders. Pediatrics. 146(3), 2020
Hasan MR et al: RAB23 coordinates early osteogenesis by repressing FGF10-pERK1/2 and GLI1. Elife. 9, 2020
Lloyd DL et al: The Drosophila homologue of MEGF8 is essential for early development. Sci Rep. 8(1):8790, 2018
Rubio EI et al: Ultrasound and MR imaging findings in prenatal diagnosis of craniosynostosis syndromes. Pediatr Radiol. 46(5):709-18, 2016
Haye D et al: Prenatal findings in carpenter syndrome and a novel mutation in RAB23. Am J Med Genet A. 164A(11):2926-30, 2014
Kadakia S et al: Carpenter syndrome: a review for the craniofacial surgeon. J Craniofac Surg. 25(5):1653-7, 2014
Victorine AS et al: Prenatal diagnosis of Carpenter syndrome: looking beyond craniosynostosis and polysyndactyly. Am J Med Genet A. 164A(3):820-3, 2014
Bhardwaj M et al: Caesarean section in a parturient with Carpenter syndrome and corrected Tetralogy of Fallot. Int J Obstet Anesth. 22(3):251-4, 2013
Cohen MM Jr. Perspectives on craniosynostosis: sutural biology et al: J Craniofac Surg. 2009 Mar;20 Suppl 1:646-51. Erratum in: J Craniofac Surg. 20(5):1629-30, 2009