Congenital anomalies of upper extremity - What Radiologist should know
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1 Congenital anomalies of upper extremity - What Radiologist should know Poster No.: C-0955 Congress: ECR 2014 Type: Educational Exhibit Authors: R. TUMMA, N. AHMED, V. Prasad; Hyderabad/IN Keywords: Congenital, Education, Conventional radiography, Musculoskeletal system DOI: /ecr2014/C-0955 Any information contained in this pdf file is automatically generated from digital material submitted to EPOS by third parties in the form of scientific presentations. References to any names, marks, products, or services of third parties or hypertext links to thirdparty sites or information are provided solely as a convenience to you and do not in any way constitute or imply ECR's endorsement, sponsorship or recommendation of the third party, information, product or service. ECR is not responsible for the content of these pages and does not make any representations regarding the content or accuracy of material in this file. As per copyright regulations, any unauthorised use of the material or parts thereof as well as commercial reproduction or multiple distribution by any traditional or electronically based reproduction/publication method ist strictly prohibited. You agree to defend, indemnify, and hold ECR harmless from and against any and all claims, damages, costs, and expenses, including attorneys' fees, arising from or related to your use of these pages. Please note: Links to movies, ppt slideshows and any other multimedia files are not available in the pdf version of presentations. Page 1 of 22
2 Learning objectives 1-2 % of newborns have congenital anomalies. Of them 10% are associated with anomalies of upper limb especially hand. Some of them occur in isolation and others occur in association with systemic, genetic disorders or syndromes. Presence of hand anomaly in infants may indicate significant anomalies in cardiovascular, neurological and hematopoietic systems [4] Classification of congenital anomalies of upper limb, and important association of these anomalies with systemic disorders, syndromes are described in this topic. As per classification examples of each caterogy of anomalies are presented Background Embryogenesis of upper limb occurs in first 4-8 weeks of intrauterine gestation. During this period any insult in the developing limb bud results in anomaly. Swanson Classification of upper limb anomalies is widely accepted[1,2]. It is based on various types of embryonic failure in developing limb bud. Categorization into one of the seven groups is based on clinical presentation [3]. Categories include 1) Failure of formation 2) Failure of differentiation 3)Duplication 4) Overgrowth 5) Undergrowth 6) Constriction bands and 7) Generalised skeletal anomalies. Majority of causes are unknown, some important causes are the following 1) Genetic disorders-trisomy of 21, 18, 13 2) Many Syndromes are associated with upper limb anomalies: Apert's syndrome ( craniofacial and limb anomalies), Poland syndrome (ipsilateral chest wall and hand anomalies), Page 2 of 22
3 Holt Oram syndrome ( cardiac defects and radial deficiency) 3) Drug ingestion during pregnancy :Thalidomide, Dilantin, Warfarin Images for this section: Table 1 Page 3 of 22
4 Findings and procedure details Table 1 References: radiology, lotus childrens hospital - Hyderabad/IN Preaxial refers to lateral (radial) ascept and post axial refers to medial (ulnar)ascept of upper limb Failure of part formation :Fig 1 Page 4 of 22
5 Radial deficiency ranges from mild hypoplasia of thumb to complete absence of radius. It is usually associated with syndromes like Holt Oram, Thrombocytopenic absent radius syndrome,vacterl anomalies,and Fanconi's anemia [1,5] Holt oram syndrome is associated with cardiac defects particularly septal defects. VACTERL anomalies include Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheoesophageal fistula, esophageal atresia, renal defects, radial dysplasia, limb abnormalities Fanconis anemia is a serious condition, clinically not evident at birth. It usually develops by 6years. Can be detected early by chromosome challenge test in newborns presenting with radial deficiency anomalies. Fig. 1: Failure of part formation :Radial ray deficiency: Radiograph showing complete absence phalanges and metacarpal bones of thumbs bilaterally, diagnosed as Holt Oram syndrome References: radiology, lotus childrens hospital - Hyderabad/IN Ulnar deficiency are less common than radial deficiency. They are usually not associated with systemic disorders Page 5 of 22
6 Central deficiencies- involves deficiency of index,middle or ring finger. It may be associated with cleft lip or cleft palate Failure of part differentiaion. Fig 2 Synbrachydactyly - includes spectrum of hand anomalies like fused fingers, small fingers, cleft hand. They are commonly associated with Polands syndrome which is characterized by underdeveloped or absent ipsilateral pectoralis muscle [1] Syndactyly is fusion of fingers. It occurs in varying degree of severity. May involve only skin and soft tissue (simple) or involve bone also (complex). Complex syndactyly is usually associated with craniofacial syndromes eg Aperts syndrome [7]. Fig. 2: Failure of differentiation:syndactyly, Radiograph A shows soft tissue fusion of 3rd, 4th and 5th digits( simple syndactyly). Radiograph B shows fused hand with few dysplastic phalanges and absence of metacarpals (complex syndactyly) References: radiology, lotus childrens hospital - Hyderabad/IN Duplication. Fig 3 Page 6 of 22
7 Polydactyly can occur on radial ascept (preaxial) or ulnar ascept (post axial). Usually seen as well formed or rudimentary extra digit Preaxial polydactyly is usually not associated with any systemic diorders whereas Post axial polydactyly needs systemic work up for associated syndromes like Ellis van crevald syndrome [1] Fig. 3: Duplication :Post axial Polydactyly- extra digit present on ulnar ascept of hand. This needs systemic work up for associated syndromes like Ellis van crevald Syndrome References: radiology, lotus childrens hospital - Hyderabad/IN Overgrowth. Fig4 Macrodactlyly can be due to overgrowth of bone or soft tissues or both. Cause is unknown. It can be static (grows proportional to rest of body) or progressive (increased growth compared to rest of body). Page 7 of 22
8 Fig. 4: Overgrowth: Focal macrodactyly with enlarged and bifid terminal phalanx of right little finger References: radiology, lotus childrens hospital - Hyderabad/IN Undergrowth Fig 5 Thumb Hypoplasia is an example of undergrowth, it can occur as part of radial ray deficiency. Presence of stable carpo-metacarpal joint is needed for reconstructive surgery Page 8 of 22
9 Fig. 5: Undergrowth: Right thumb is hypoplastic with absence of carpometacarpal joint. Stable carpometacarpal joint is needed for reconstructive surgery References: radiology, lotus childrens hospital - Hyderabad/IN Miscellaneous. Fig 6, 7 Congenital dislocation of radius [6] may be isolated or associated with syndromes like nail patella syndrome and klinefelters syndrome. It causes limitation of motion or mild deformity of elbow in children. Page 9 of 22
10 Fig. 6: Miscellanoeus : Lateral Radiograph of elbow of 4 month child showing Congenital dislocation of radius References: radiology, lotus childrens hospital - Hyderabad/IN Arthrogryposis multiplex- involves contractures of multiple joints, most commonly wrist Page 10 of 22
11 Fig. 7: Miscellaneous :Infantogram of newborn diagnosed as Arthrogryposis Multiplex showing flexion deformities of hands and left foot. There is also fracture of right humerus which occured during delivery References: radiology, lotus childrens hospital - Hyderabad/IN Generalised anomalies and syndromes. Fig 8 Page 11 of 22
12 Upper limb anomalies occuring as part of generalized syndromes like shortened humerus in Downs syndrome, Madelung's deformity in mesomelic dwarfism, Syndactyly in Aperts syndrome etc Fig. 8: Generalised anomalies and syndromes: Down's Syndrome. Chest radiograph including upper arms showing bilateral shortened humeri References: radiology, lotus childrens hospital - Hyderabad/IN Images for this section: Page 12 of 22
13 Fig. 1: Failure of part formation :Radial ray deficiency: Radiograph showing complete absence phalanges and metacarpal bones of thumbs bilaterally, diagnosed as Holt Oram syndrome Page 13 of 22
14 Fig. 2: Failure of differentiation:syndactyly, Radiograph A shows soft tissue fusion of 3rd, 4th and 5th digits( simple syndactyly). Radiograph B shows fused hand with few dysplastic phalanges and absence of metacarpals (complex syndactyly) Page 14 of 22
15 Fig. 3: Duplication :Post axial Polydactyly- extra digit present on ulnar ascept of hand. This needs systemic work up for associated syndromes like Ellis van crevald Syndrome Page 15 of 22
16 Fig. 4: Overgrowth: Focal macrodactyly with enlarged and bifid terminal phalanx of right little finger Page 16 of 22
17 Fig. 5: Undergrowth: Right thumb is hypoplastic with absence of carpometacarpal joint. Stable carpometacarpal joint is needed for reconstructive surgery Page 17 of 22
18 Fig. 6: Miscellanoeus : Lateral Radiograph of elbow of 4 month child showing Congenital dislocation of radius Page 18 of 22
19 Fig. 7: Miscellaneous :Infantogram of newborn diagnosed as Arthrogryposis Multiplex showing flexion deformities of hands and left foot. There is also fracture of right humerus which occured during delivery Page 19 of 22
20 Fig. 8: Generalised anomalies and syndromes: Down's Syndrome. Chest radiograph including upper arms showing bilateral shortened humeri Page 20 of 22
21 Conclusion There is wide spectrum of congenital anomalies involving upper limb. Swansons classification is useful in categorising them. Upper limb anomalies may be associated with systemic disorders or syndromes. Principle organs involved are cardiac, renal,git and hematological systems. Systemic work up is necessary in certain conditions like radial ray defiencies,syndactyly and post axial polydactyly Personal information Dr Roja Tumma MD,EDiR, Consultant Radiologist, Department of Radiology, Lotus Childrens Hospital, Hyderabad, India. E mail - rojatumma@gmail.com Dr Nadeem Ahmed, MD,DNB, Consultant Radiologist, Department of Radiology, Lotus Childrens Hospital, Hyderabad, India. Dr VSV Prasad, MDPeds(AIIMS), ABPeds(USA), Chief Consultant Neonatologist and Pediatric Intensivist,Lotus Childrens Hospital, Hyderabad, India. References 1) Upper-Extremity Congenital Anomalies Scott H. Kozin, J Bone Joint Surg Am. 2003;85: ) J Hand Surg Am Jul;1(1):8-22. A classification for congenital limb malformations.swanson AB 3) JCraniofac Surg Jul;20(4): Congenital anomalies of the hand: an overview. Linder JM et 4)J Craniofac Surg Jul;20(4): Page 21 of 22
22 Congenital thumb deformities and associated syndromes. Ashbaugh H 5) Hand Surgery,1st Edition, 2004 Lippincott Williams & wilkins, Congenital Disorders: Radial and Ulnar Club Hand 6) Congenital Dislocation of the Radial Head. POSNA-The Pediatric Orthopaedic Society of North America ( 7) J Craniofac Surg Sep;14(5): Hand abnormalities associated with craniofacial syndromes. Panthaki Zj et all Page 22 of 22
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