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Congenital talipes equinovarus: frequency of associated malformations not identified by prenatal ultrasound

M Hassan Toufaily1, Marie-Noel Westgate, Lewis B Holmes

  • 1Medical Genetics Unit, MassGeneral Hospital for Children, Department of Pediatrics, Harvard Medical School, Boston, MA, USA.

Prenatal Diagnosis
|November 15, 2014
PubMed

Insights

Nearly 5% of infants with isolated clubfoot (talipes equinovarus) had previously undetected birth defects. These associated malformations did not impact the overall medical prognosis for affected infants.

Area of Science:

  • Pediatric Orthopedics
  • Clinical Genetics
  • Prenatal Diagnosis

Background:

  • Clubfoot (talipes equinovarus) is a common congenital foot deformity.
  • Isolated clubfoot is typically defined as the absence of other congenital anomalies.
  • Prenatal diagnosis of clubfoot is common, but associated malformations may be missed.

Purpose of the Study:

  • To determine the frequency of birth defects in infants with apparently isolated clubfoot that were not detected during pregnancy.
  • To identify the types of associated malformations in infants with isolated talipes equinovarus.

Main Methods:

  • A cohort study was conducted on 311,480 infants born between 1972 and 2012.
  • Infants with clubfoot were identified at birth and categorized as "isolated" or "complex" talipes equinovarus (TEV).
  • Chromosomal analysis and physical examination were used for classification.

Main Results:

  • 142 infants had "isolated" TEV, and 66 had "complex" TEV.
  • Six of 142 infants (4.2%) with isolated TEV had associated malformations not detected prenatally.
  • These included hip dislocation, polydactyly, penile chordee, and hypospadias.

Conclusions:

  • The majority of infants (95.8%) with isolated talipes equinovarus had no additional malformations identified at birth.
  • The identified associated malformations were generally minor and did not significantly alter the infant's medical outlook.
Abstract

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