2009
DOI: 10.1097/scs.0b013e318184357a
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Carpenter Syndrome

Abstract: Carpenter syndrome is a rare autosomal recessive disorder that belongs to a group of rare craniosynostosis syndromes (Bull Soc Med Paris 1906;23:1310). Carpenter syndrome is the rarest, with only occasional patients seen. There are 3 common features in all of these syndromes: craniosynostosis (skull base abnormalities, with early fusion in different sutures), midface hypoplasia, and musculoskeletal abnormalities. Clinical features of Carpenter syndrome include peculiar facies, asymmetry of the skull, polydacty… Show more

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Cited by 45 publications
(15 citation statements)
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“…Two other studies mention cause of death in adult patients. One 34-year-old patient died of congestive heart failure secondary to Eisenmenger syndrome, and the other was a sudden, unexplained adult death [4,11]. The child described above died unexpectedly at home at nearly 8 years of age.…”
Section: Discussionmentioning
confidence: 92%
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“…Two other studies mention cause of death in adult patients. One 34-year-old patient died of congestive heart failure secondary to Eisenmenger syndrome, and the other was a sudden, unexplained adult death [4,11]. The child described above died unexpectedly at home at nearly 8 years of age.…”
Section: Discussionmentioning
confidence: 92%
“…Two adult siblings, one with mild mental retardation and one with low normal intelligence, were able to successfully complete high school as well as some junior college and business school courses [4]. Another adult with severe mental retardation was dependent upon adult aid [11]. Growth was reported to be either slightly delayed or normal with persistence of obersity [11,14].…”
Section: Discussionmentioning
confidence: 97%
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“…60 Carpenter syndrome also shows syndactyly, heart defects and craniosynostosis but mental retardation is seen in nearly all cases. 61 Saethre-Clotzen syndrome is a mild form of congenital bone deformation with craniosynostosis, low set frontal hair line, parrot-beaked nose, variable facial symmetry and brachydactyly. Saethre-Clotzen syndrome does not have the syndactyly feature of Apert and the ptosis and hypertelorism are less expressed than in Crouzon syndrome.…”
Section: Discussionmentioning
confidence: 99%