Acta Chir Orthop Traumatol Cech. 2025; 92(4):237-240 | DOI: 10.55095/achot2025/006
Thoracomelia in Poland AnomalyCase report
- 1 Department of Orthopedics and Hand Surgery, Faculty of Medicine and Health, Örebro University, Örebro, Sweden
- 2 School of Health Sciences, Faculty of Medicine and Health, Örebro University, Örebro, Sweden
Poland Anomaly (PA) represents pectoral muscle hypoplasia in combination with various forms of hand anomalies. We report a case of PA with pectoral hypoplasia, an upper limb deficiency and an accessory extremity/digit on the ipsilateral thoracic wall (thoracomelia). To our knowledge, this is the first reported case of thoracomelia in PA.
Keywords: ulnar aplasia, thoracomelia, Poland anomaly.
Received: November 12, 2024; Revised: November 12, 2024; Accepted: February 17, 2025; Prepublished online: June 24, 2025; Published: August 1, 2025 Show citation
References
- Al-Qattan MM, Kozin SH. Update on embryology of the upper limb. J Hand Surg Am. 2013;38:1835-1844.
Go to original source...
Go to PubMed...
- Al-Qattan MM. Classification of hand anomalies in Poland's syndrome. Br J Plast Surg. 2001;54:132-136.
Go to original source...
Go to PubMed...
- Baas M, Burger EB, Sneiders D, Galjaard RH, Hovius SER, van Nieuwenhoven CA. Controversies in Poland syndrome: alternative diagnoses in patients with congenital pectoral muscle deficiency. J Hand Surg Am. 2018;43:186.e1-.e16.
Go to original source...
Go to PubMed...
- Baban A, Torre M, Costanzo S, Gimelli S, Bianca S, Divizia MT, Sénès FM, Garavelli L, Rivieri F, Lerone M, Valle M, Ravazzolo R, Calevo MG. Familial Poland anomaly revisited. Am J Med Genet A. 2012;158A:140-149.
Go to original source...
Go to PubMed...
- Bavinck JN, Weaver DD. Subclavian artery supply disruption sequence: hypothesis of a vascular etiology for Poland, Klippel-Feil, and Möbius anomalies. Am J Med Genet. 1986;23:903-918.
Go to original source...
Go to PubMed...
- Freire-Maia N, Chautard EA, Opitz JM, Freire-Maia A, Quelce-Salgado A. The Poland syndrome-clinical and genealogical data, dermatoglyphic analysis, and incidence. Hum Hered. 1973;23:97-104.
Go to original source...
Go to PubMed...
- Goldfarb CA, Ezaki M, Wall LB, Lam WL, Oberg KC. The Oberg-Manske-Tonkin (OMT) classification of congenital upper extremities: update for 2020. J Hand Surg Am. 2020;45:542-547.
Go to original source...
Go to PubMed...
- Goldfarb CA, Manske PR, Busa R, Mills J, Carter P, Ezaki M. Upper-extremity phocomelia reexamined: a longitudinal dysplasia. J Bone Joint Surg Am. 2005;87):2639-2648.
Go to original source...
Go to PubMed...
- Jha AK, Nauhria S, Maity S. Polymelia (thoracomelia), an extremely rare appearance of congenital anomalic limb in a Nepalese child and its embryological basis. Anat Cell Biol. 2023;56:584-587.
Go to original source...
Go to PubMed...
- Kelani AB, Moumouni H, Issa AW, Younsaa H, Fokou H, Sani R, Sanoussi S, Denholm LJ, Beever JE, Catala M. Notomelia and related neural tube defects in a baby born in Niger: case report and literature review. Childs Nerv Syst. 2017;33:529-534.
Go to original source...
Go to PubMed...
- Lovely AM, Duerr TJ, Qiu Q, Galvan S, Voss SR, Monaghan JR. Wnt signaling coordinates the expression of limb patterning genes during axolotl forelimb development and regeneration. Front Cell Dev Biol. 2022;10:814250.
Go to original source...
Go to PubMed...
- McGillivray BC, Lowry RB. Poland syndrome in British Columbia: incidence and reproductive experience of affected persons. Am J Med Genet. 1977;1:65-74.
Go to original source...
Go to PubMed...
- Poland A. Deficiency of the pectoral muscles. Guy's Hosp Rep. 1841;6:191-193.
- Romanini MV, Calevo MG, Puliti A, Vaccari C, Valle M, Senes F, Torre M. Poland syndrome: a proposed classification system and perspectives on diagnosis and treatment. Semin Pediatr Surg. 2018;27:189-199.
Go to original source...
Go to PubMed...
- Unger S, Ferreira CR, Mortier GR, Ali H, Bertola DR, Calder A, Cohn DH, Cormier-Daire V, Girisha KM, Hall C, Krakow D, Makitie O, Mundlos S, Nishimura G, Robertson SP, Savarirayan R, Sillence D, Simon M, Sutton VR, Warman ML, Superti-Furga A. Nosology of genetic skeletal disorders: 2023 revision. Am J Med Genet A. 2023;191:1164-1209.
Go to original source...
Go to PubMed...
- Vaccari CM, Tassano E, Torre M, Gimelli S, Divizia MT, Romanini MV, Bossi S, Musante I, Valle M, Senes F, Catena N, Bedeschi MF, Baban A, Calevo MG, Acquaviva M, Lerone M, Ravazzolo R, Puliti A. Assessment of copy number variations in 120 patients with Poland syndrome. BMC Med Genet. 2016;17:89.
Go to original source...
Go to PubMed...
- Verma S, Khanna M, Tripathi VN, Yadav NC. Occurrence of polymelia in a female child. J Clin Imaging Sci. 2013;3:18.
Go to original source...
Go to PubMed...