Reeha Mahajan Associate Professor, Department of Anatomy, All India Institute of Medical Sciences, Jammu & Kashmir, India
Address for correspondence: Reeha Mahajan, Associate Professor, Department of Anatomy, All India Institute of Medical Sciences, Jammu & Kashmir, India E-mail: mahajan.reeha@gmail.com
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Reeha Mahajan. Atypical Foetal Limb Dysplasia: An Anatomical Insight into the Uncommon Lower Limb Congenital Defects. Ind Jr Anat. 2025; 14(2): 69-72.
Timeline
Received : July 23, 2025
Accepted : August 06, 2025
Published : August 10, 2025
Abstract
The global birth prevalence of congenital malformations is about 2-3%. Congenital heart defects are the most common followed by the limb anomalies. Congenital limb deficiencies have many causes and often occur as a component of various congenital syndromes. During routine examination of a foetus of 18 weeks gestation obtained for foetal repository in the department of anatomy, some atypical limb anomalies were noted on gross examination which were further evaluated by detailed dissection. This case was identified to be a case of unilateral fibular hemimelia with tibial bone spur and oligodactyly in the same limb. The knowledge of such atypical anomalies is of tremendous clinical relevance for radiologists, obstreticians, paediatricians, paediatric surgeons and orthopaedic surgeons who need to be aware about the presence of such defects at this gestational age for its timely detection, appropriate counselling of parents and timely intervention for surgical planning.
References
1. Grogan D.P., Love S.M., Ogden J.A. Congenital malformations of the lower extremities. Orthop Clin North Am. 1987 Oct; 18(4): 537–54.
2. Tayel S., Fawzia M., Al-Naqeeb N.A., Gouda S., Al Awadi S., Naguib K. A morpho-etiological description of congenital limb anomalies. Ann Saudi Med. 2005; 25(3): 219–27.
3. Bedard T., Lowry R.B., Sibbald B., Kiefer G.N., Metcalfe A. Congenital limb deficiencies in Alberta-a review of 33 years (1980-2012) from the Alberta Congenital Anomalies Surveillance System (ACASS). Am J Med Genet A. 2015 Nov; 167A(11): 2599–609.
4. Klaassen Z., Shoja M.M., Tubbs R.S., Loukas M. Supernumerary and absent limbs and digits of the lower limb: a review of the literature. Clin Anat N Y N. 2011 July; 24(5): 570–5.
5. Eze K.C., Akhigbe A.O., Awosanya G.O. Fibular Hemimelia: A Case Report. Niger J Clin Pract. 2007; 10(3): 258–61.
6. Avila J. Fibular Hemimelia: A Case Series of Nine Patients Treated with Syme Amputation. Glob J Orthop Res [Internet]. 2022 Oct 12 [cited 2025 July 21]; 4(1). Available from: https:// irispublishers.com/gjor/fulltext/fibularhemimelia-a-case-series-of-nine-patientstreated-with-syme-amputation.ID.000577.php.
7. Baroudi I., Alakhras O., Douri T., Alkhani N. Adams–Oliver syndrome, intestinal obstruction and heart defects: a case series of aplasia cutis congenita. Oxf Med Case Rep. 2022 Jan 24; 2022(1): omab141.
8. MSD Manual Professional Edition [Internet]. [cited 2025 July 22]. Congenital Limb Anomalies - Pediatrics. Available from: https://www. msdmanuals.com/professional/pediatrics/ congenital-musculoskeletal-anomalies/ congenital-limb-anomalies.
9. Yakistiran B., Altinboga O., Yuce T., Caglar AT. Fetal fibular hemimelia with focal femoral deficiency: A case report. Turk J Obstet Gynecol. 2019 Sept; 16(3): 205–7.
10. Kavipurapu S.P., Maganthi M., Sundar L.S., Ramya S. Fibular Aplasia, Tibial Campomelia, Oligo-Syndactyly Syndrome and Probable Femur Fibula Ulna Syndrome- Case Reports. J Clin Diagn Res [Internet]. 2021 [cited 2025 July 22]; Available from: https://jcdr.net/article_ fulltext.asp?issn=0973-709x&year=2021&vo lume=15&issue=2&page=SD01&issn=0973- 709x&id=14551.
11. Bastida M.F., Sheth R., Ros M.A. A BMP-Shh negative-feedback loop restricts Shhexpression during limb development. Development. 2009 Nov 15; 136(22): 3779–89.
12. Chiang C. From Oligodactyly to Polydactyly. In: Ruiz i Altaba A., editor. Hedgehog-Gli Signaling in Human Disease [Internet]. Boston, M.A.: Springer US; 2006 [cited 2025 July 23]. p. 137–45. Available from: https://doi. org/10.1007/0-387-33777-6_11.
13. Cameron T.L., Belluoccio D., Farlie P.G., Brachvogel B., Bateman J.F. Global comparative transcriptome analysis of cartilage formation in vivo. BMC Dev Biol. 2009 Mar 10; 9(1): 20.
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All authors contributed significantly to the work and approve its publication.
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Reeha Mahajan. Atypical Foetal Limb Dysplasia: An Anatomical Insight into the Uncommon Lower Limb Congenital Defects. Ind Jr Anat. 2025; 14(2): 69-72.
This license enables reusers to distribute, remix, adapt, and build upon the material in any medium or format for noncommercial purposes only, and only so long as attribution is given to the creator.
This license enables reusers to distribute, remix, adapt, and build upon the material in any medium or format for noncommercial purposes only, and only so long as attribution is given to the creator.