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

被引：4

作者：

Ramos, Jeanette M. ^{[1
]}

Davis, Gregory J. ^{[1
,2
]}

Hunsaker, John C. I. I. I. ^{[1
,2
]}

Balko, M. Gregory ^{[3
]}

机构：

[1] Univ Kentucky, Coll Med, Dept Pathol & Lab Med, Lexington, KY 40536 USA

[2] Centralized Lab Facil, Off Associate Chief Med Examiner, Frankfort, KY 40601 USA

[3] Med Legal Consultants Inc, Forens Neuropathol, Ft Wright, KY 41011 USA

来源：

FORENSIC SCIENCE MEDICINE AND PATHOLOGY | 2009年 / 5卷 / 04期

关键词：

Forensic pathology; Carpenter syndrome; Acrocephalopolysyndactyly type II; Sudden natural death; Congenital heart disease; Medicolegal autopsy; NORMAL HUMAN HEARTS; AGE-RELATED-CHANGES; 1ST; 10; DECADES; CLINICAL SPECTRUM; SPECIMENS; SIBLINGS; GROWTH; LIFE; OLD;

D O I：

10.1007/s12024-009-9128-2

中图分类号：

DF [法律]; D9 [法律]; R [医药、卫生];

学科分类号：

0301 ; 10 ;

摘要：

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.

引用

页码：313 / 317

页数：5

共 15 条

[1] ACROCEPHALOPOLYSYNDACTYLY TYPE-II - CARPENTER SYNDROME - CLINICAL SPECTRUM AND AN ATTEMPT AT UNIFICATION WITH GOODMAN AND SUMMIT SYNDROMES [J].

COHEN, DM ;

GREEN, JG ;

MILLER, J ;

GORLIN, RJ ;

REED, JA .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1987, 28 (02) :311-324

[2]

Gilbert-Barness E., 2005, HDB PEDIAT AUTOPSY P

[3] Carpenter Syndrome [J].

Hidestrand, Pip ;

Vasconez, Henry ;

Cottrill, Carol .

JOURNAL OF CRANIOFACIAL SURGERY, 2009, 20 (01) :254-256

[4]

Islek I, 1998, CLIN DYSMORPHOL, V7, P185

[5] RAB23 mutations in carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity [J].

Jenkins, Dagan ;

Seelow, Dominik ;

Jehee, Fernanda S. ;

Perlyn, Chad A. ;

Alonso, Luis G. ;

Bueno, Daniela F. ;

Donnai, Dian ;

Josifiova, Dragana ;

Mathijssen, Irene M. J. ;

Morton, Jenny E. V. ;

Orstavik, Karen Helene ;

Sweeney, Elizabeth ;

Wall, Steven A. ;

Marsh, Jeffrey L. ;

Nurnberg, Peter ;

Passos-Bueno, Maria Rita ;

Wilkie, Andrew O. M. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 80 (06) :1162-1170

[6] AGE-RELATED-CHANGES IN NORMAL HUMAN HEARTS DURING THE 1ST 10 DECADES OF LIFE .2. (MATURITY) A QUANTITATIVE ANATOMIC STUDY OF 765 SPECIMENS FROM SUBJECTS 20 TO 99 YEARS OLD [J].

KITZMAN, DW ;

SCHOLZ, DG ;

ILSTRUP, DM ;

EDWARDS, WD .

MAYO CLINIC PROCEEDINGS, 1988, 63 (02) :137-146

[7] Craniofacial dysmorphology of Carpenter syndrome: Lessons from three affected siblings [J].

Perlyn, Chad A. ;

Marsh, Jeffrey L. .

PLASTIC AND RECONSTRUCTIVE SURGERY, 2008, 121 (03) :971-981

[8] CARPENTER SYNDROME - NATURAL-HISTORY AND CLINICAL SPECTRUM [J].

ROBINSON, LK ;

JAMES, HE ;

MUBARAK, SJ ;

ALLEN, EJ ;

JONES, KL .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1985, 20 (03) :461-469

[9] AGE-RELATED-CHANGES IN NORMAL HUMAN HEARTS DURING THE 1ST 10 DECADES OF LIFE .1. (GROWTH) A QUANTITATIVE ANATOMIC STUDY OF 200 SPECIMENS FROM SUBJECTS FROM BIRTH TO 19 YEARS OLD [J].

SCHOLZ, DG ;

KITZMAN, DW ;

HAGEN, PT ;

ILSTRUP, DM ;

EDWARDS, WD .

MAYO CLINIC PROCEEDINGS, 1988, 63 (02) :126-136

[10]

SCHOLZ DG, 1988, MAYO CLIN P, V63, P637

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