Isolated congenital amastia: A subclavian artery supply disruption sequence?

American Journal of Medical Genetics, Part A

Volumn 152, Issue 3, 2010, Pages 792-794

  Bianca, Sebastiano ^a   Licciardello, Maria ^b   Barrano, Barbara ^a   Ettore, Giuseppe ^a  

^a ARNAS Garibaldi Nesima   (Italy)

^b UNIVERSITY OF CATANIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

AGENESIS; AMASTIA; ARTERY BLOOD FLOW; AUTOSOMAL DOMINANT INHERITANCE; BREAST DEVELOPMENT; BREAST DISEASE; BREAST HYPOPLASIA; CASE REPORT; CHILD; CLINICAL EXAMINATION; ECHOCARDIOGRAPHY; FEMALE; HUMAN; LETTER; MAMMARY GLAND; PECTORALIS MAJOR MUSCLE; PRESCHOOL CHILD; PRIORITY JOURNAL; SPINE RADIOGRAPHY; SUBCLAVIAN ARTERY;

BREAST; FEMALE; HUMANS; INFANT; MODELS, BIOLOGICAL; NIPPLES; SUBCLAVIAN ARTERY; SYNDROME;

EID: 77649218956     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33255     Document Type: Letter

References (13)

1. Bamshad M, Le T, Watkins WS, Dixon ME, Kramer BE, Roeder AD, Carey JC, Root S, Schinzel A, Van Maldergem L, Gardner RJ, Lin RC, Seidman CE, Seidman JG, Wallerstein R, Moran E, Sutphen R, Campbell CE, Jorde LB. 1999. The spectrum of mutations in TBX3: genotype/phenotype relationship in ulnar-mammary syndrome. Am J Hum Genet 64: 1550-1562.
2. Bavinck JNB, Weaver DD. 1986. Subclavian artery supply disruption sequence: Hypothesis of vascular etiology for Poland, Klippel-Feil and Moebius anomalies. Am J Med Genet 23:903-918.
3. Bouvet JP, Leveque D, Bernetieres F, Gross JJ. 1978. Vascular origin of Poland syndrome? A comparative rheographic study of the vascularisation of the arms in eight patients. Eur J Pediat 128:17-26.
4. Fraser FC. 1956. Dominant inheritance of absent nipples and breasts. In: Novant'Anni Delle Leggi Mendeliane. Rome: Istituto Gregorio Mendel (pub.). 360 pp.
5. Goldenring H, Crelin ES. 1961. Mother and daughter with bilateral congenital amastia. Yale J Biol Med 33:466-467.
6. Kowlessar M, Orti E. 1968. Complete breast absence in siblings. Am J Dis Child 115:91-92.
7. Merlob P. 2003. Congenital malformations and development changes of the breast: A neonatological view. J Pediatr Endocrinol Metabol 16: 471-485.
8. Online Mendelian Inheritance in Man, OMIM TM. 2009. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/.
9. Pinheiro M, Freire-Maia N, Chautard-Freire-Maia EA, Araujo LMB, Liberman B. 1983. AREDYLD: A syndrome combining an acrorenal field defect, ectodermal dysplasia, lipoatrophic diabetes, and other manifestations. Am J Med Genet 16:29-33.
10. Poland A. 1841. Deficiency of the pectoral muscle. Guys Hosp Rep 6:191.
11. Schinzel A. 1987. Ulnar-mammary syndrome. J Med Genet 24:778-781.
12. Spear SL, Pelletiere CV, Lee ES, Grotting JC. 2004. Anterior thoracic hypoplasia: A separate entity from Poland syndrome. Plast Reconstr Surg 113:69-77.
13. Wilson MG, Hall EB, Ebbin AJ, 1972. Dominant inheritance of absence of the breast. Humangenetik 15:268.