Análise casuística da sindactilia congênita: experiência com 47 pacientes

Mandarano-Filho, Luiz Garcia; Bezuti, Márcio Takey; Akita, Rubens; Mazzer, Nílton; Barbieri, Cláudio Henrique

doi:10.1590/s1413-78522013000600007

Cited by 11 publications

(3 citation statements)

References 14 publications

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“…Syndactyly is phenotypically complex. In consistent with most published reports, right side preference and upper limb preference were confirmed in both isolated and associated syndactyly [ 4 , 41 , 42 ]. However, upper limbs and lower limbs were equally involved in several studies [ 30 ].…”

Section: Discussionsupporting

confidence: 91%

The changing epidemiology of syndactyly in Chinese newborns: a nationwide surveillance-based study

Chen,

Li,

et al. 2023

BMC Pregnancy Childbirth

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Background Little is known about the epidemiologic features of syndactyly (SD) in Chinese newborns. Methods Using 2007–2019 data from the Chinese Birth Defects Monitoring Network, we conducted a prevalence analysis on overall, isolated and associated syndactyly according to birth year, maternal age, maternal residence, geographic region and infant sex, with special interests in time trends, perinatal outcomes and clinical phenotypes. Results A total of 13,611 SD cases were identified among 24,157,719 births in the study period, yielding the prevalence of 5.63, 4.66 and 0.97 per 10,000 for overall, isolated, and associated SD, respectively. The prevalence of each type of SD exhibited an upward trend over the period. The prevalence of overall SD varied significantly by maternal residence (urban vs. rural, 6.69/10,000 vs. 4.35/10,000), maternal age (< 20 years, 5.43/10,000; 20–24 years, 5.03/10,000; 25–29 year, 5.65/10,000; 30–34 years, 6.07/10,000; ≥ 35 years, 5.76/10,000), geographic region (central, 5.07/10,000; east, 6.75/10,000; west, 5.12/10,000), and infant sex (male vs. female, 6.28/10,000 vs. 4.86/10,000). Newborns with associated SD were more likely to be born prematurely (29.2% vs. 10.6%) or with low birthweight (30.5% vs.9.8%) than those with isolated SD. The bilaterally, and unilaterally affected cases accounted for 18.4% and 76.7%, respectively. The feet were more frequently involved (64.3%) in those bilaterally affected cases, while right side preference (right vs left: 53.8% vs 46.2%) and upper limbs preference (hand vs foot: 50.8% vs 48.0%) were found in unilateral cases. Conclusions The prevalence of syndactyly in China is on the rise and notably higher than that in other Asian and European countries, highlighting the importance of investigating the etiology, epidemiology, and clinical implications of this condition in the Chinese population.

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Section: Discussionsupporting

confidence: 91%

The changing epidemiology of syndactyly in Chinese newborns: a nationwide surveillance-based study

Chen,

Li,

et al. 2023

BMC Pregnancy Childbirth

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“…The main principle of the surgical treatment of SD and other associated limb deformities is to gain functional and useful limbs with less chance of recurrence. Skin grafts are the operational procedures most commonly used for corrective purposes in limbs affected with SD [100], although open-treatment methods for SD avoid leftover postoperative marks on the skin and are comparatively useful, with the best end results [101]. Several modern surgical techniques have been successfully practiced in the clinics with the aim of achieving useful limbs with no post-operative scars, smooth mobility of the digits, and fewer chances of recurrence.…”

Section: Diagnosis and Surgical Treatment Of Syndactylymentioning

confidence: 99%

Recent Advances in Syndactyly: Basis, Current Status and Future Perspectives

Zaib

Rashid

Khan

et al. 2022

Genes

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A comprehensive summary of recent knowledge in syndactyly (SD) is important for understanding the genetic etiology of SD and disease management. Thus, this review article provides background information on SD, as well as insights into phenotypic and genetic heterogeneity, newly identified gene mutations in various SD types, the role of HOXD13 in limb deformities, and recently introduced modern surgical techniques for SD. This article also proposes a procedure for genetic analysis to obtain a clearer genotype–phenotype correlation for SD in the future. We briefly describe the classification of non-syndromic SD based on variable phenotypes to explain different phenotypic features and mutations in the various genes responsible for the pathogenesis of different types of SD. We describe how different types of mutation in HOXD13 cause various types of SD, and how a mutation in HOXD13 could affect its interaction with other genes, which may be one of the reasons behind the differential phenotypes and incomplete penetrance. Furthermore, we also discuss some recently introduced modern surgical techniques, such as free skin grafting, improved flap techniques, and dermal fat grafting in combination with the Z-method incision, which have been successfully practiced clinically with no post-operative complications.

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“…Syndactyly should be corrected early in life, with optimal surgical time ranging from 6 months to 18 months of age in infants with simple syndactyly, and before 6 months for complex syndactyly [ 89 ]. Most of conventional surgical techniques use skin grafts [ 90 ]. However, open treatment is better than skin grafting because of better match of texture without a patchwork-like scar [ 91 ].…”

Section: Diagnosis Treatment and Prognosismentioning

confidence: 99%

Advances in the Molecular Genetics of Non-syndromic Syndactyly

Deng¹,

Tan

2015

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Syndactyly, webbing of adjacent digits with or without bony fusion, is one of the most common hereditary limb malformations. It occurs either as an isolated abnormality or as a component of more than 300 syndromic anomalies. There are currently nine types of phenotypically diverse nonsyndromic syndactyly. Non-syndromic syndactyly is usually inherited as an autosomal dominant trait, although the more severe presenting types and subtypes may show autosomal recessive or X-linked pattern of inheritance. The phenotype appears to be not only caused by a main gene, but also dependant on genetic background and subsequent signaling pathways involved in limb formation. So far, the principal genes identified to be involved in congenital syndactyly are mainly involved in the zone of polarizing activity and sonic hedgehog pathway. This review summarizes the recent progress made in the molecular genetics, including known genes and loci responsible for non-syndromic syndactyly, and the signaling pathways those genetic factors involved in, as well as clinical features and animal models. We hope our review will contribute to the understanding of underlying pathogenesis of this complicated disorder and have implication on genetic counseling.

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Análise casuística da sindactilia congênita: experiência com 47 pacientes

Cited by 11 publications

References 14 publications

The changing epidemiology of syndactyly in Chinese newborns: a nationwide surveillance-based study

The changing epidemiology of syndactyly in Chinese newborns: a nationwide surveillance-based study

Recent Advances in Syndactyly: Basis, Current Status and Future Perspectives

Advances in the Molecular Genetics of Non-syndromic Syndactyly

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