A classification for congenital limb malformations

Swanson, Alfred B.

doi:10.1016/s0363-5023(76)80021-4

Cited by 366 publications

(145 citation statements)

References 10 publications

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“…They consider, for instance, whether the insult involves soft/skeletal tissue or only the dermomyofascial structure. 18 One of the prime objectives of these classification schemes has been to help adopt best surgical and treatment methods to restore the correct digit number, size of individual rays, and digit shape. 29 Additionally, these schemes were based on the observations of sporadic cases and post-traumatic syndactylies.…”

Section: Syndactyly: Appreciation and Development Of Classificationmentioning

confidence: 99%

Syndactyly: phenotypes, genetics and current classification

2012

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Syndactyly is one of the most common hereditary limb malformations depicting the fusion of certain fingers and/or toes. It may occur as an isolated entity or a component of more than 300 syndromic anomalies. Syndactylies exhibit great inter-and intra-familial clinical variability. Even within a subject, phenotype can be unilateral or bilateral and symmetrical or asymmetrical. At least nine non-syndromic syndactylies with additional sub-types have been characterized. Most of the syndactyly types are inherited as autosomal dominant but two autosomal recessive and an X-linked recessive entity have also been described. Whereas the underlying genes/mutations for types II-1, III, IV, V, and VII have been worked out, the etiology and molecular basis of the other syndactyly types remain unknown. In this communication, based on an overview of wellcharacterized isolated syndactylies, their cardinal phenotypes, inheritance patterns, and clinical and genetic heterogeneities, a 'current classification scheme' is presented. Despite considerable progress in the understanding of syndactyly at clinical and molecular levels, fundamental questions regarding the disturbed developmental mechanisms leading to fused digits, remain to be answered.

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Section: Syndactyly: Appreciation and Development Of Classificationmentioning

confidence: 99%

Syndactyly: phenotypes, genetics and current classification

2012

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“…The most common manifestation is a unilateral below-elbow amputation [4]. The most widely accepted classification of congenital limb anomalies was proposed by Frantz and O'Rahilly and presented by Swanson [5,6]. This system defines the anomalies according to the embryonic failure during development and relies on the clinical diagnosis for categorization.…”

Section: Discussionmentioning

confidence: 99%

Absence of Forearm and Hand- A Rare Case Presentation

Dayanand¹,

Bami²,

Daultani³

et al. 2013

JCR

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Abstract:Introduction: Congenital anomalies affect 1% to 2% of newborns, and approximately 10% of those children have upper-extremity abnormalities. The hemimelias can have three additional descriptions: complete, partial and paraxial.Case Report: We present a rare case of 4 year old female child who presented to our department with the absence of distal humerus, elbow joint, forearm and hand since birth. On examination, the patient was found to have a small nevus about 0.5 cm in diameter over the thoracic spine and bilateral flat feet with metatarsus adductus of left limb. The child also had weakness of the right abdominal musculature. Radiograph of the upper limb was taken which showed absence of the distal humeral epiphysis. Conclusion:Early use of prosthesis in congenital amputee can help in reducing the disability for the child in the future and help the child to have a near normal functioning limb.

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“…Consequently, these defects can serve as indicators in a search for genetic and environmental causes [1]. In many instances, it is possible to sub-classify the type by the site of the malformation [4]. Furthermore, each major class is subdivided into one of two main groups according to whether abnormalities are essentially limited to the limbs or associated with malformation in other organs.…”

Section: Introductionmentioning

confidence: 99%

Mutations in HODX13 and ZRS/LMBR1 Genes and Chromosomal Abnormalities Cause Congenital Limb Defects

Kizilbash¹

2017

MOJCSR

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Congenital limb defects occur when a portion or the entire upper or lower limb fails to form normally. The most common congenital limb defects include complete or partial absence of the limb, failure of the portion of the limb to separate, duplication, overgrowth or undergrowth of the limb. Presently, congenital limb defects are treated by the use of prosthetic devices, which are mostly valuable for lower-limb deficiencies and for completely or almost completely absent upper limbs. The most common known causes for congenital limb defects are genetic mutations and chromosomal abnormalities. However, details about how they exert their effect are still less understood. Keywords:

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A classification for congenital limb malformations

Cited by 366 publications

References 10 publications

Syndactyly: phenotypes, genetics and current classification

Syndactyly: phenotypes, genetics and current classification

Absence of Forearm and Hand- A Rare Case Presentation

Mutations in HODX13 and ZRS/LMBR1 Genes and Chromosomal Abnormalities Cause Congenital Limb Defects

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