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Four Unusual Cases of Congenital Forelimb Malformations in Dogs

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animals Article Four Unusual Cases of Congenital Forelimb Malformations in Dogs Simona Di Pietro 1 , Giuseppe Santi Rapisarda 2, Luca Cicero 3,* , Vito Angileri 4, Simona Morabito 5, Giovanni Cassata 3 and Francesco Macrì 1 1 Department of Veterinary Sciences, University of Messina, Viale Palatucci, 98168 Messina, Italy; [email protected] (S.D.P.); [email protected] (F.M.) 2 Department of Veterinary Prevention, Provincial Health Authority of Catania, 95030 Gravina di Catania, Italy; [email protected] 3 Institute Zooprofilattico Sperimentale of Sicily, Via G. Marinuzzi, 3, 90129 Palermo, Italy; [email protected] 4 Veterinary Practitioner, 91025 Marsala, Italy; [email protected] 5 Ospedale Veterinario I Portoni Rossi, Via Roma, 57/a, 40069 Zola Predosa (BO), Italy; [email protected] * Correspondence: [email protected] Simple Summary: Congenital limb defects are sporadically encountered in dogs during normal clinical practice. Literature concerning their diagnosis and management in canine species is poor. Sometimes, the diagnosis and description of congenital limb abnormalities are complicated by the concurrent presence of different malformations in the same limb and the lack of widely accepted classification schemes. In order to improve the knowledge about congenital limb anomalies in dogs, this report describes the clinical and radiographic findings in four dogs affected by unusual congenital forelimb defects, underlying also the importance of reviewing current terminology. Citation: Di Pietro, S.; Rapisarda, G.S.; Cicero, L.; Angileri, V.; Morabito, Abstract: Four dogs were presented with thoracic limb deformity. After clinical and radiographic S.; Cassata, G.; Macrì, F. Four Unusual examinations, a diagnosis of congenital malformations was performed for each of them. In one Cases of Congenital Forelimb case, a deformity involving both the radial and ulnar side of the distal limb was observed. Based on Malformations in Dogs. Animals 2021, clinical and radiological evaluations, a diagnosis of postaxial terminal longitudinal ulnar hemimelia 11, 813. https://doi.org/10.3390/ was performed. The term ectrodactyly was used to refer different malformations characterized ani11030813 by skin and soft tissue separation of the distal forelimb observed in two dogs. Simple complete uncomplicated syndactyly of the right forelimb, and complex incomplete uncomplicated syndactyly Academic Editor: Francesca Ciotola of the left forelimb were diagnosed in the fourth case. To the authors’ knowledge, ectrodactyly and Received: 1 February 2021 simple complete uncomplicated syndactyly are very uncommon anomalies in companion animals Accepted: 11 March 2021 and have been rarely documented. Moreover, postaxial terminal longitudinal ulnar hemimelia has Published: 14 March 2021 still not been reported in dogs. Publisher’s Note: MDPI stays neutral Keywords: congenital limb deformity; dog; ectrodactily; syndactyly; ulnar hemimelia with regard to jurisdictional claims in published maps and institutional affil- iations. 1. Introduction Appendicular skeletal dysostoses are a group of dysmorphologies arising from al- terations of the limb’s developmental process, resulting in a wide range of abnormalities Copyright: © 2021 by the authors. involving individual bones or portions of bones of the growing embryo body extremi- Licensee MDPI, Basel, Switzerland. ties [1]. This article is an open access article Hereditary (genetic aberrations) and environmental factors (drugs, maternal diseases, distributed under the terms and radiations and trauma) can cause an abnormal developmental process or an interference conditions of the Creative Commons with a normal developmental process, respectively [2,3]. Attribution (CC BY) license (https:// Limb formation is an intricate process, which takes place during the first weeks (from creativecommons.org/licenses/by/ D23 to D35) of gestation in dogs [3–5] Presumptive limb-forming fields are early established 4.0/). Animals 2021, 11, 813. https://doi.org/10.3390/ani11030813 https://www.mdpi.com/journal/animals Animals 2021, 11, 813 2 of 12 during embryonic development because of the rounding up of the somatic mesoderm cells of the hypomere beneath the surface ectoderm [5,6]. Congenital defects and varying associations of stilopodium, zeugopodium and au- topodium dysmorphologies have been previously described in cats and dogs. [7–12]. The term stylopodium refers to a limb that terminates anywhere along the femur or humerus; zeugopodium is a limb that terminates along the radius and ulna or tibia and fibula, and autopodium when a limb terminates at the bones of the manus [13]. Recent reports of forelimb and hindlimb malformations of carnivores include ectro- dactyly [14], preaxial longitudinal intercalary radial hemimelia [15], simple syndactyly and unilateral pelvic limb adactyly in puppies [16,17], absence of the humerus with preaxial terminal longitudinal hemimelia and hypoplasia of the scapula in a dog [17] and partial paraxial radial hemimelia [18]. Despite the growing number of reports, in dogs the current knowledge about congeni- tal limb deformity is very poor. Moreover, compared to human literature, in veterinary medicine a complete and unequivocal description of many congenital defects is still lacking. In order to improve the knowledge about congenital limb anomalies in dogs, the aim of this report is to describe the clinical and radiographic findings in four dogs affected by dysostoses of the distal extremities. The importance of this report lies in it helping the clinician to recognize more easily the features of rarely reported congenital limb deformities in canine species in order to perform a diagnosis. 2. Case Presentations 2.1. Ethical Statement No ethical approval was required in compliance with European Directive 2010/63/UE and Italian Regulation D.Lgs n. 26/2014 because all the data derived from routine veteri- nary clinical practices. 2.2. Clinical Examination Four client-owned, crossbreed young dogs were presented each with an obvious de- formity in the forelimbs. All dogs had an unknown history and the anomalies of forelimbs were supposed to be congenital. The sites of deformation were assessed by physical and radiographic examination. Forelimb radiographs were obtained using an Analogic Radio- graphic/Fluoroscopic Table System (Dedalus Mb 90/20 IMX-2A, Imago Radiology S.r.l., 20081, Abbiategrasso (MI), Italy) with a digital radiography system (Fujifilm Medical Sys- tems, Cernusco sul Naviglio (MI), Italy) in different projections: mediolateral, oblique and dorsopalmar views. The following X-ray exposure setting was used: 40–60 kV, 8–12.5 mAs, 100 cm film-focus distance, no grid. Below, the physical and radiographic findings of enrolled dogs are described. 2.3. Case 1 A two-year-old male dog was referred for a nonfunctional right forelimb due to decreased range of motion of the right elbow joint and moderate disuse muscle atrophy with no pain during palpation. On physical examination, coexistent clinical abnormalities were a reduced number of digits (hypodactlyly) with a complete rotation of the lateral nail, and an ectopic digit-like structure in the elbow region. Three complete footpads (metacarpal pad and two digital pads) were observed. A footpad was also present in the digit like structure (Figure1). Animals 2021, 11, 813 3 of 12 Animals 2021, 11, x 3 of 12 Animals 2021, 11, x 3 of 12 FigureFigure 1. Case 1. Medial Medial ( (AA)) and and lateral lateral ( (BB)) views views of of the the right right forelimb. forelimb. Figure 1. Case 1. Medial (A) and lateral (B) views of the right forelimb. The radiographic examination consisted consisted of of two two views, views, including including a amediolateral mediolateral view view ofof thetheThe forelimb radiographic section examinationand a dorsoplantar consisted view view of twoof of the the views, manus manus including (Figures (Figures a 22mediolateral andand 33).). view of the forelimb section and a dorsoplantar view of the manus (Figures 2 and 3). FigureFigure 2. CaseCase 1. 1.Craniocaudal Craniocaudal radiograph radiograph (A) and (A) drawing and drawing scheme scheme (B) of the (B) right of the forelimb right forelimb mal- Figure 2. Case 1. Craniocaudal radiograph (A) and drawing scheme (B) of the right forelimb mal- malformation.formation. R: Radius; R: Radius; RC: radial RC: carpal radial bone; carpal CB: bone; carpal CB: bone; carpal MC: bone; metacarpal MC:metacarpal bone; PP: proximal bone; PP: formation.phalange; MP: R: Radius; middle RC: phalange; radial carpal DP: distal bone; phalan CB: carpalge; DS: bone; dorsal MC: sesamoid; metacarpal PSB: bone; proximal PP: proximal sesa- proximal phalange; MP: middle phalange; DP: distal phalange; DS: dorsal sesamoid; PSB: proximal phalange;moid bone. MP: middle phalange; DP: distal phalange; DS: dorsal sesamoid; PSB: proximal sesa- sesamoidmoid bone. bone. Figure 3. Case 1. Mediolateral radiograph (A) and drawing scheme (B) of the right forelimb mal- Figureformation. 3. Case CaseH: humerus; 1. 1.Mediolateral Mediolateral U: ulna; radiograph R: radiograph radius; ( RC:A) and (radialA) drawing and carpal drawing scheme bone; schemeCB: (B) second of the (B) right and of the thirdforelimb right distal forelimbmal- car- malformation.formation.pal bone; MC: H: humerus;metacarpal H: humerus; U: bone; ulna; U: PP:R: ulna; radius; proximal R: RC: radius; phalange; radial RC: carpal MP: radial bone; middle carpal CB: phal second bone;ange; CB:and DP: secondthird distal
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  • Orphanet Journal of Rare Diseases Biomed Central

    Orphanet Journal of Rare Diseases Biomed Central

    Orphanet Journal of Rare Diseases BioMed Central Review Open Access Brachydactyly Samia A Temtamy* and Mona S Aglan Address: Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre (NRC), El-Buhouth St., Dokki, 12311, Cairo, Egypt Email: Samia A Temtamy* - [email protected]; Mona S Aglan - [email protected] * Corresponding author Published: 13 June 2008 Received: 4 April 2008 Accepted: 13 June 2008 Orphanet Journal of Rare Diseases 2008, 3:15 doi:10.1186/1750-1172-3-15 This article is available from: http://www.ojrd.com/content/3/1/15 © 2008 Temtamy and Aglan; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Abstract Brachydactyly ("short digits") is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis. The various types of isolated brachydactyly are rare, except for types A3 and D. Brachydactyly can occur either as an isolated malformation or as a part of a complex malformation syndrome. To date, many different forms of brachydactyly have been identified. Some forms also result in short stature. In isolated brachydactyly, subtle changes elsewhere may be present. Brachydactyly may also be accompanied by other hand malformations, such as syndactyly, polydactyly, reduction defects, or symphalangism. For the majority of isolated brachydactylies and some syndromic forms of brachydactyly, the causative gene defect has been identified.