Isolated postaxial polydactyly: Epidemiologic characteristics from a multicenter birth defects study

Abstract

Isolated postaxial polydactyly (I-PAP), as a single defect, is a frequent malformation, characterized by an extra digit placed on the ulnar or fibular side of the limbs. Worldwide prevalence varies from as high as 225/10,000 in Nigerians to so low as 6.08/10,000 in Argentinians. Genetic-ethnic background significantly affects worldwide prevalence and type of I-PAP. Herein we describe the epidemiological characteristics of I-PAP in 697 newborns, 383 males and 314 females identified in 1,178,993 examined live births from a multicenter case-control hospital-based population study, the Mexican program of Registry and Epidemiological Surveillance of Congenital Malformations (RYVEMCE). The main characteristics analyzed included total I-PAP, stratified in Types A and B, defined as complete or incomplete extra-digitformation, respectively, sex prevalence, affected limb, laterality, parity, prematurity, delivery-type, twinning, consanguinity, and parental age. Males (6.35/10,000) are significantly more frequently affected than females (5.45/10,000), hands more than feet, left more than right limbs, and Type B (74.50%) more than A (25.50%). Prematurity and forceps use were significantly more frequent in cases than controls. An evident decreasing time-trend prevalence was present. Similar findings with other studies were males, upper and left limbs more frequently affected. Findings that were not previously reported include prematurity, forceps use, a significant decreasing time trend and an inverse ethnic prevalence for Types A (75%) and B (25%) in the Mayan population in contrast to other worldwide ethnic groups. K E Y W O R D S epidemiologic characteristics, isolated postaxial polydactyly, multicenter study

Moderate altitude as a risk factor for isolated congenital malformations. Results from a case–control multicenter–multiregional study

“…In that regard, the Mexican population is conformed by Mexican-mestizo admixture, predominantly a European (64.9%) paternal ancestry, followed by Native American (30.8%) and African (4.2%) (Martínez-Cortés et al, 2012) while the low altitude group (<1500 m) corresponds to children born at hospitals of the Southeast regions, Yucatan and Quintana Roo states, where the Mayan language represents a significant proportion of the genetic background of this population (Maya genetic variants). This is quite different from the populations of the other states, where less than 1% of the people speak the Mayan language (Ortiz-Cruz et al, 2019). Another possible hypothesis is that the higher climate temperatures at sea level and low altitudes compared to high altitudes could affect the development of the central nervous system, as others have reported (Auger et al, 2017).…”

“…The sample source in the present study was obtained from the Mexican Registry and Epidemiological Surveillance of Congenital Malformations (RYVEMCE), currently coordinated at the Department of Genetics of the National Institute of Medical Sciences and Nutrition Salvador Zubir an (Arteaga-V azquez et al, 2019;Mutchinick et al, 1988;Ortiz-Cruz et al, 2019). In brief, the RYVEMCE is a multicenter-multiregional hospital-based case-control surveillance study.…”

The frequency and spectrum of birth defects among 486 longlivers from Ivano-Frankivsk region (West Ukraine)

“…Our data will enhance and complement the data of other publications [22,23]. Second, we used hospital registry data, which allowed us to survey more patients.…”