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[Apert's syndrome with polymetatarsia].

A Nivelon1, J L Nivelon, M Matthieu

  • 1Centre Hospitalier Régional, Dijon.

Annales De Pediatrie
|January 1, 1991
PubMed
Summary

This study reports three cases of acrocephalosyndactyly with unique toe and foot bone anomalies. The findings suggest Apert acrocephalosyndactyly over Carpenter syndrome due to distinct facial features and severity.

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Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Orthopedics

Background:

  • Acrocephalosyndactyly encompasses a group of genetic disorders characterized by premature fusion of skull sutures and webbing of digits.
  • Carpenter syndrome and Apert syndrome are distinct conditions within this group, differing in inheritance patterns and clinical manifestations.

Observation:

  • Three patients presented with acrocephalosyndactyly, specifically duplication of the first toe and six metatarsals.
  • Facial dysmorphism in these patients differed from typical Carpenter syndrome presentations.
  • The degree of syndactyly (webbing of digits) was more severe than commonly observed in Carpenter syndrome.

Findings:

  • The observed clinical features, including distinct facial anomalies and severe syndactyly, are more consistent with Apert acrocephalosyndactyly.
  • Apert acrocephalosyndactyly is typically inherited in an autosomal dominant pattern.
  • The likely presence of a new mutation in these cases suggests a minimal risk of recurrence in siblings.

Implications:

  • Accurate diagnosis of acrocephalosyndactyly subtypes is crucial for genetic counseling and understanding prognosis.
  • Distinguishing between Apert and Carpenter syndromes based on specific phenotypic features is clinically important.
  • The identification of potential new mutations highlights the genetic heterogeneity within acrocephalosyndactyly disorders.

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