Etiology of chest wall deformities-a genetic review for the treating physician

Journal of Pediatric Surgery

Volumn 44, Issue 10, 2009, Pages 2004-2011

  Kotzot, Dieter ^a   Schwabegger, Anton H ^a  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

Author keywords

Cleft sternum; Moebius anomaly; Pectus carinatum; Pectus excavatum; Poland anomaly

Indexed keywords

CLEFT STERNUM; FUNNEL CHEST; GENETIC ASSOCIATION; HUMAN; MARFAN SYNDROME; MONOGENIC DISORDER; NOONAN SYNDROME; PIGEON THORAX; PRIORITY JOURNAL; REVIEW; THORAX DEFORMITY;

ABNORMALITIES, MULTIPLE; ADULT; CHILD; FEMALE; FUNNEL CHEST; HUMANS; MALE; MARFAN SYNDROME; MUSCULOSKELETAL ABNORMALITIES; NOONAN SYNDROME; STERNUM; SYNDROME; THORACIC WALL;

EID: 70350065938     PISSN: 00223468     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpedsurg.2009.07.029     Document Type: Review

References (19)

1. Cartoski M.J., Nuss D., Goretsky M.J., et al. Classification of the dysmorphology of pectus excavatum. J Pediatr Surg 41 9 (2006) 1573-1581
2. Sadler T.W. Embryology of the sternum. Chest Surg Clin N Am 10 2 (2000) 237-244
3. Leung A.K., and Hoo J.J. Familial congenital funnel chest. Am J Med Genet 26 4 (1987) 887-890
4. Stoddard S.E. The inheritance of "hollow chest" "cobber chest" due to heredity-not an occupational deformity. J Hered 30 (1939) 139-141
5. Nowak H. Die erbliche trichterbrust. Dtsch Med Wochenschr 62 (1936) 2003-2004
6. Creswick H.A., Stacey M.W., Kelly Jr. R.E., et al. Family study of the inheritance of pectus excavatum. J Pediatr Surg 41 10 (2006) 1699-1703
7. De Paepe A., Devereux R.B., Dietz H.C., et al. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 62 4 (1996) 417-426
8. Loeys B., De Backer J., and Van Acker P. Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome. Hum Mutat 24 2 (2004) 140-146
9. Loeys B.L., Chen J., Neptune E.R., et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 37 3 (2005) 275-281
10. Allanson J.E. Noonan syndrome. Am J Med Genet 145C 3 (2007) 274-279
11. Zori R.T., Stalker H.J., and Williams C.A.A. Syndrome of familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails. Dysmorph Clin Genet 6 (1992) 116-122
12. Beals R.K., and Fraser W. Familial congenital bowing of the tibia with pseudarthrosis and pectus excavatum: report of a kindred. J Bone Joint Surg 58 4 (1976) 545-548
13. Khaldi F., Bennaceur B., and Hammou A. An autosomal recessive disorder with retardation of growth, mental deficiency, ptosis, pectus excavatum and camptodactyly. Pediatr Radiol 18 5 (1988) 432-435
14. Guízar-Vázquez J., Sánchez G., and Manzano C. Peculiar face, pectus carinatum and joint laxity in brother and sister. Clin Genet 18 4 (1980) 280-283
15. Fokin A.A., and Robicsek F. Poland's syndrome revisited. Ann Thorac Surg 74 6 (2002) 2218-2225
16. Verzijl H.T., van der Zwaag B., Cruysberg J.R., et al. Möbius syndrome redefined: a syndrome of rhombencephalic maldevelopment. Neurology 61 3 (2003) 327-333
17. Haque K.N. Isolated asternia: an independent entity. Clin Genet 25 4 (1984) 362-365
18. Takaya J., Kitamura N., Tsuji K., et al. Pentalogy of Cantrell with a double-outlet right ventricle: 3.5-year follow-up in a prenatally diagnosed patient. Eur J Pediatr 167 1 (2008) 103-105
19. Metry D.W., Haggstrom A.N., Drolet B.A., et al. A prospective study of PHACE syndrome in infantile hemangiomas: demographic features, clinical findings, and complications. Am J Med Genet 140A 9 (2006) 975-986