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Isolation of Type I and Type II Pericytes from Mouse Skeletal Muscles
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Polydactyly, postaxial, type B.

Lewis B Holmes1,2,3, Hanah Nasri1,2, Anne-Therese Hunt4

  • 1Department of Pediatric Newborn Medicine, Brigham and Women's Hospital, Boston.

Birth Defects Research
|January 30, 2018
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Summary

Postaxial polydactyly, type B, a common congenital anomaly, is usually an isolated, mild condition. This study found it more prevalent in Black infants and males, often presenting as a dangling extra digit on the hand.

Keywords:
African-Americansisolated malformationmild abnormalitypostaxial polydactylypreaxial polydactylytype Atype B

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Area of Science:

  • Medical genetics
  • Developmental biology
  • Clinical teratology

Background:

  • Postaxial polydactyly, type B, characterized by a vestigial sixth digit attached by a pedicle, is the most frequent form of polydactyly.
  • This condition exhibits variations in occurrence across different racial groups, sexes, and sidedness.

Purpose of the Study:

  • To establish the frequency of postaxial polydactyly, type B, in various racial groups, its sex ratio, and the incidence of associated anomalies.
  • To analyze the characteristics and prevalence of postaxial polydactyly, type B, within a large cohort.

Main Methods:

  • Utilized a malformations surveillance program to identify affected infants over a 40-year period (1972-2012).
  • Included data from liveborn infants, stillborn infants, and elective terminations with prenatally detected fetal anomalies.

Main Results:

  • Identified 545 infants with postaxial polydactyly, type B, out of 289,365 total infants.
  • Postaxial polydactyly, type B, was an isolated anomaly in 95% of cases, with a higher incidence in males and Black infants compared to White infants.
  • The anomaly was more common in hands than feet.

Conclusions:

  • Postaxial polydactyly, type B, is typically an isolated, mild malformation with no significant medical implications.
  • The co-occurrence of types A and B suggests potential shared genetic mutations or multiple mutations in affected infants.
  • Autosomal dominant inheritance with variable expressivity is proposed as the mode of inheritance.