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Amastia

MedGen UID:
429802
•Concept ID:
CN033494
•
Disease or Syndrome
Synonyms: Absent breasts and nipples; Complete absence of breasts
 
Monarch Initiative: MONDO:0007238

Definition

Absence of one or both mammary glands. [from MONDO]

Recent clinical studies

Etiology

Reconstruction of Severe Burns to the Breast in Pediatric Patients: A 10-Year Experience.
Sadeq F, Cauley R, Depamphilis MA, Driscoll DN, Ehrlichman R
J Burn Care Res 2020 May 2;41(3):568-575. doi: 10.1093/jbcr/irz196. PMID: 32043135
Breast Reconstruction in Poland Syndrome Patients with Latissimus Dorsi Myo Flap and Implant: An Efficient Endoscopic Approach Using Single Transverse Axillary Incision.
Liu C, Luan J, Ouyang Y, Zhuang Y, Xu B, Chen L, Li S, Fu S, Xin M
Aesthetic Plast Surg 2019 Oct;43(5):1186-1194. Epub 2019 Mar 14 doi: 10.1007/s00266-019-01346-0. PMID: 30877446
Proposal of the TBN Classification of Thoracic Anomalies and Treatment Algorithm for Poland Syndrome.
Romanini MV, Torre M, Santi P, Dova L, Valle M, Martinoli C, Baldelli I
Plast Reconstr Surg 2016 Jul;138(1):50-58. doi: 10.1097/PRS.0000000000002256. PMID: 27348639
A newborn with Poland anomaly and liver ectopy: an unusual association with important prognostic implications.
Chalak LF, Parham DM
Pediatr Dev Pathol 2007 Mar-Apr;10(2):134-7. doi: 10.2350/06-04-00801.1. PMID: 17378683
Breast asymmetries: a brief review and our experience.
Araco A, Gravante G, Araco F, Gentile P, Castrì F, Delogu D, Filingeri V, Cervelli V
Aesthetic Plast Surg 2006 May-Jun;30(3):309-19. doi: 10.1007/s00266-005-0178-x. PMID: 16733775

Diagnosis

Breast reconstruction via fat grafting for a patient with bilateral congenital amastia (Finlay-Marks syndrome).
Ito R, Yamamoto Y, Maeda T, Ishikawa K, Funayama E
Congenit Anom (Kyoto) 2021 Jul;61(4):142-143. Epub 2021 Apr 18 doi: 10.1111/cga.12416. PMID: 33830564
Poland Syndrome with Amastia-athelia.
Chatterjee R, Patel K, Pandey D, Rathod B
Neurol India 2019 Jul-Aug;67(4):1167. doi: 10.4103/0028-3886.266297. PMID: 31512674
Congenital amastia.
Patil LG, Shivanna NH, Benakappa N, Ravindranath H, Bhat R
Indian J Pediatr 2013 Oct;80(10):870-1. Epub 2012 Dec 20 doi: 10.1007/s12098-012-0919-1. PMID: 23255076
A case of congenital unilateral amastia.
Hatano A, Nagasao T, Sotome K, Shimizu Y, Kishi K
J Plast Reconstr Aesthet Surg 2012 May;65(5):671-4. Epub 2011 Nov 2 doi: 10.1016/j.bjps.2011.09.025. PMID: 22051444
Poland's syndrome and premature ovarian failure.
Derman O, Gold MA
J Pediatr Adolesc Gynecol 2004 Dec;17(6):389-92. doi: 10.1016/j.jpag.2004.09.015. PMID: 15603981

Therapy

Parietal bone agenesis and athelia in retinoic acid embryopathy: An expansion of the phenotype.
Yang XR, Wright JR Jr, Yu W, Langdon KD, Somerset D, Thomas MA
Birth Defects Res 2022 Jan 1;114(1):17-22. Epub 2021 Nov 13 doi: 10.1002/bdr2.1965. PMID: 34773723
What does a breast feel like? A qualitative study among healthy women.
Cornelissen AJM, Tuinder SMH, Heuts EM, van der Hulst RRWJ, Slatman J
BMC Womens Health 2018 Jun 1;18(1):82. doi: 10.1186/s12905-018-0577-1. PMID: 29859071Free PMC Article
Poland's syndrome and premature ovarian failure.
Derman O, Gold MA
J Pediatr Adolesc Gynecol 2004 Dec;17(6):389-92. doi: 10.1016/j.jpag.2004.09.015. PMID: 15603981
Ectodermal dysplasia, lipoatrophy, diabetes mellitus, and amastia: a second case of the AREDYLD syndrome.
Breslau-Siderius EJ, Toonstra J, Baart JA, Koppeschaar HP, Maassen JA, Beemer FA
Am J Med Genet 1992 Oct 1;44(3):374-7. doi: 10.1002/ajmg.1320440321. PMID: 1488989
Reconstruction of congenital amastia with complication.
Taylor GA
Ann Plast Surg 1979 Jun;2(6):531-4. doi: 10.1097/00000637-197906000-00014. PMID: 543624

Prognosis

Breast Reconstruction in Poland Syndrome Patients with Latissimus Dorsi Myo Flap and Implant: An Efficient Endoscopic Approach Using Single Transverse Axillary Incision.
Liu C, Luan J, Ouyang Y, Zhuang Y, Xu B, Chen L, Li S, Fu S, Xin M
Aesthetic Plast Surg 2019 Oct;43(5):1186-1194. Epub 2019 Mar 14 doi: 10.1007/s00266-019-01346-0. PMID: 30877446
A newborn with Poland anomaly and liver ectopy: an unusual association with important prognostic implications.
Chalak LF, Parham DM
Pediatr Dev Pathol 2007 Mar-Apr;10(2):134-7. doi: 10.2350/06-04-00801.1. PMID: 17378683
Breast asymmetries: a brief review and our experience.
Araco A, Gravante G, Araco F, Gentile P, Castrì F, Delogu D, Filingeri V, Cervelli V
Aesthetic Plast Surg 2006 May-Jun;30(3):309-19. doi: 10.1007/s00266-005-0178-x. PMID: 16733775

Clinical prediction guides

Breast Reconstruction in Poland Syndrome Patients with Latissimus Dorsi Myo Flap and Implant: An Efficient Endoscopic Approach Using Single Transverse Axillary Incision.
Liu C, Luan J, Ouyang Y, Zhuang Y, Xu B, Chen L, Li S, Fu S, Xin M
Aesthetic Plast Surg 2019 Oct;43(5):1186-1194. Epub 2019 Mar 14 doi: 10.1007/s00266-019-01346-0. PMID: 30877446

Recent systematic reviews

Bilateral congenital amazia: a case report and systematic review of the literature.
Dreifuss SE, Macisaac ZM, Grunwaldt LJ
J Plast Reconstr Aesthet Surg 2014 Jan;67(1):27-33. Epub 2013 Jul 26 doi: 10.1016/j.bjps.2013.06.048. PMID: 23896162

Supplemental Content

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