Abstract
Congenital deformities of the upper limb concern anomalies affecting one of the bony structures such as the shoulder, humerus, ulna, radius, and hand. A list of the most common anomalies is made, also highlighting the extreme diagnostic difficulty of prenatal recognition. The diagnostic path is indicated.
In cases where the anomaly is suspected, the use of genetic diagnosis is useful for greater diagnostic precision.
Many of these diseases are associated with abnormalities of other organs.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Rao R, Platt LD. Ultrasound screening: Status of markers and efficacy of screening for structural abnormalities. Semin Perinatol. 2016;40(1):67–78.
Tsui V, Crismani W. The Fanconi anemia pathway and fertility. Trends Genet. 2019;35(3):199–214.
Manukjan G, Bösing H, Schmugge M, Strauß G, Schulze H. Impact of genetic variants on haematopoiesis in patients with thrombocytopenia absent radii (TAR) syndrome. Br J Haematol. 2017;179(4):606–17.
Özdemir M, Turan A, Kavak RP. Ulnar hemimelia: a report of four cases. Skeletal Radiol. 2019;48(7):1137–43.
Tomaszewski R, Bulandra A. Ulnar dimelia-diagnosis and management of a rare congenital anomaly of the upper limb. J Orthop. 2015;12(Suppl 1):S121–4.
Malik S. Syndactyly: phenotypes, genetics and current classification. Eur J Hum Genet. 2012;20(8):817–24.
Baek GH, Kim JJ. Oligodactyly with thumb. Hand Surg Asian Pac Vol. 2016;21(3):283–91.
Jones MV. Oligodactyly. J Bone Joint Surg Br. 1957;39-B(4):752–4.
Malik S. Polydactyly: phenotypes, genetics and classification. Clin Genet. 2014;85(3):203–12.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2024 The Author(s), under exclusive license to Springer Nature Switzerland AG
About this chapter
Cite this chapter
Di Meglio, A., Orlandi, G. (2024). Congenital Deformities of the Upper Limb. In: Di Meglio, A. (eds) Prenatal Diagnosis of Fetal Osteopathologies. Springer, Cham. https://doi.org/10.1007/978-3-031-39347-1_7
Download citation
DOI: https://doi.org/10.1007/978-3-031-39347-1_7
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-031-39346-4
Online ISBN: 978-3-031-39347-1
eBook Packages: MedicineMedicine (R0)