Familial crossed polysyndactyly in four generations of an Indian family

Dewan, Pooja; Agarwal, Nitin; Dewan, Preeti; Batta, Vineet

doi:10.1007/s12519-010-0020-7

Cited by 2 publications

(2 citation statements)

References 12 publications

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“…Some cases of PPD IV are labeled as crossed polydactyly type 1. The main characteristic feature is the constant occurrence of polydactyly preaxially in the feet and postaxially in the hands in all affected family members . Cheng et al have demonstrated that crossed polydactyly type 1 is caused by point mutations of the GLI3 gene.…”

Section: Gli3‐related Syndromes/conditionsmentioning

confidence: 99%

GLI3‐related polydactyly: a review

et al. 2017

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GLI3 mutations are known to be associated with nine syndromes/conditions in which polydactyly is a feature. In this review, the embryology, pathogenesis, and animal models of GLI3-related polydactyly are discussed first. This is followed by a detailed review of the genotype-phenotype correlations. Based on our review of the literature and our clinical experiences, we recommend viewing GLI3-related syndromes/conditions as four separate entities; each characterized by a specific pattern of polydactyly. These four entities are: the preaxial polydactyly type IV-Greig-acrocallosal spectrum, postaxial polydactyly types A/B, Pallister-Hall syndrome (PHS), and oral-facial-digital overlap syndrome. We also provide illustrative clinical examples from our practice including a family with a novel GLI3 mutation causing PHS. The review also introduces the term 'Forme Fruste' preaxial polydactyly and gives several conclusions/recommendations including the recommendation to revise the current criteria for the clinical diagnosis of PHS.

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Section: Gli3‐related Syndromes/conditionsmentioning

confidence: 99%

GLI3‐related polydactyly: a review

et al. 2017

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“…Syndactyly of toes, postaxial polydactyly of the fingers, polysyndactyly, and brachydactyly were found to have a genetic basis. 17,18 The most severe form, ie, tetra-amelia, characterized by complete absence of all four limbs, and associated anomalies, including craniofacial, pulmonary, and urogenital defects was found to be an autosomal recessive genetic disorder due to mutation of the WNT3 gene locus assigned to chromosome 17q21. 19,20 Researchers have found a mutation in the WNT3 gene in people with tetra-amelia syndrome from one large family.…”

Section: Discussionmentioning

confidence: 99%

Limb anomaly and associated conditions: our clinical experience

Ragavan¹,

Haripriya²,

Sarvavinothini³

et al. 2011

PHMT

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Limb anomalies are a common clinical problem with a various spectrum of involvement. There are many conditions associated with these anomalies. There is a variable extent of involvement in the form of agenesis, overgrowth, and duplication, and there is no standard classification to describe all these lesions. Studying limb anomalies provides insights into limb development which may be useful for etiologic studies and public health monitoring. We pooled our data for 12 limb anomaly cases presenting from January 2008 to May 2009 and investigated their associated conditions. A descriptive system for the nomenclature and classification of congenital limb malformations suitable for clinical, epidemiological, and experimental use is discussed.

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Familial crossed polysyndactyly in four generations of an Indian family

Abstract: Familial crossed polysyndactyly is a rare malformation and all family members should be screened for other congenital malformations.

Cited by 2 publications

References 12 publications

GLI3‐related polydactyly: a review

GLI3‐related polydactyly: a review

Limb anomaly and associated conditions: our clinical experience

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