Literature DB >> 19924577

Sudden death in a child with Carpenter Syndrome. Case report and literature review.

Jeanette M Ramos1, Gregory J Davis, John C Hunsaker, M Gregory Balko.   

Abstract

Carpenter syndrome (Acrocephalopolysyndactyly type II) is a rare disorder characterized by acrocephaly, mental retardation, congenital heart disease, syndactyly, preaxial polydactyly, obesity, cryptorchidism, hypogenitalism, bony abnormalities, and umbilical hernia. We present a case of unexpected death of a 7-year-old boy with Carpenter Syndrome complicated by twin and premature birth as well as repaired congenital heart disease.

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Year:  2009        PMID： 19924577     DOI： 10.1007/s12024-009-9128-2

Source DB:  PubMed          Journal:  Forensic Sci Med Pathol        ISSN： 1547-769X            Impact factor:   2.007


  12 in total

1.  Carpenter syndrome: report of two siblings.

Authors:  I Işlek; S Küçüködük; L Incesu; M B Selçuk; D Aygün
Journal:  Clin Dysmorphol       Date:  1998-07       Impact factor: 0.816

2.  Carpenter syndrome with normal intelligence and precocious growth.

Authors:  J White; D B Boldt; D J David; L Sheffield; D A Simpson
Journal:  Acta Neurochir (Wien)       Date:  1981       Impact factor: 2.216

Review 3.  Acrocephalopolysyndactyly type II--Carpenter syndrome: clinical spectrum and an attempt at unification with Goodman and Summit syndromes.

Authors:  D M Cohen; J G Green; J Miller; R J Gorlin; J A Reed
Journal:  Am J Med Genet       Date:  1987-10

4.  Cerebral malformations in Carpenter syndrome.

Authors:  S Taravath; J H Tonsgard
Journal:  Pediatr Neurol       Date:  1993 May-Jun       Impact factor: 3.372

Review 5.  Age-related changes in normal human hearts during the first 10 decades of life. Part I (Growth): A quantitative anatomic study of 200 specimens from subjects from birth to 19 years old.

Authors:  D G Scholz; D W Kitzman; P T Hagen; D M Ilstrup; W D Edwards
Journal:  Mayo Clin Proc       Date:  1988-02       Impact factor: 7.616

Review 6.  Age-related changes in normal human hearts during the first 10 decades of life. Part II (Maturity): A quantitative anatomic study of 765 specimens from subjects 20 to 99 years old.

Authors:  D W Kitzman; D G Scholz; P T Hagen; D M Ilstrup; W D Edwards
Journal:  Mayo Clin Proc       Date:  1988-02       Impact factor: 7.616

7.  The carpenter syndrome phenotype.

Authors:  Erkan Tarhan; Haldun Oğuz; Mustafa Asim Safak; Erdal Samim
Journal:  Int J Pediatr Otorhinolaryngol       Date:  2004-03       Impact factor: 1.675

8.  Craniofacial dysmorphology of Carpenter syndrome: lessons from three affected siblings.

Authors:  Chad A Perlyn; Jeffrey L Marsh
Journal:  Plast Reconstr Surg       Date:  2008-03       Impact factor: 4.730

9.  RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity.

Authors:  Dagan Jenkins; Dominik Seelow; Fernanda S Jehee; Chad A Perlyn; Luis G Alonso; Daniela F Bueno; Dian Donnai; Dragana Josifova; Dragana Josifiova; Irene M J Mathijssen; Jenny E V Morton; Karen Helene Orstavik; Elizabeth Sweeney; Steven A Wall; Jeffrey L Marsh; Peter Nurnberg; Maria Rita Passos-Bueno; Andrew O M Wilkie
Journal:  Am J Hum Genet       Date:  2007-04-18       Impact factor: 11.025

10.  Carpenter syndrome.

Authors:  Pip Hidestrand; Henry Vasconez; Carol Cottrill
Journal:  J Craniofac Surg       Date:  2009-01       Impact factor: 1.046
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  2 in total

1.  Burden of vaccine-preventable disease in adult Medicaid and commercially insured populations: analysis of claims-based databases, 2006–2010.

Authors:  Girishanthy Krishnarajah; Charlotte Carroll; Julie Priest; Bhakti Arondekar; Stuart Burstin; Myron Levin
Journal:  Hum Vaccin Immunother       Date:  2014       Impact factor: 3.452

Review 2.  Cardiovascular Implications in Idiopathic and Syndromic Obesity in Childhood: An Update.

Authors:  Maurizio Delvecchio; Carmela Pastore; Federica Valente; Paola Giordano
Journal:  Front Endocrinol (Lausanne)       Date:  2020-06-09       Impact factor: 5.555
  2 in total

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