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[Acrocephalosyndactyly I (Apert syndrome)].

G Linss1

  • 1Hautklinik im Klinikum Frankfurt.

Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete
|November 1, 2000
PubMed
Summary

A fourteen-year-old girl presented with acrocephalosyndactyly I, exhibiting craniofacial abnormalities, syndactyly, and acne. Her case highlights the varied presentation and potential sporadic occurrence of this genetic disorder.

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Area of Science:

  • Medical Genetics
  • Clinical Dysmorphology

Background:

  • Acrocephalosyndactyly type I (ACS I), also known as Apert syndrome, is a rare genetic disorder characterized by premature fusion of skull sutures and syndactyly.
  • It typically follows an autosomal dominant inheritance pattern, though sporadic mutations are common.

Observation:

  • A 14-year-old female presented with classic ACS I features: dysostosis craniofacialis (hypertelorism, exophthalmos, strabismus, amblyopia), cleft palate, and syndactyly of fingers and toes.
  • Additional findings included bilateral 6 cm horny bands on the feet, papulopustular acne with comedones since age 12, and menarche at age 13.
  • Intellectual development was normal; her father was 54 and mother 36 at her birth, with two healthy elder siblings.

Findings:

  • The patient exhibited a comprehensive set of features consistent with acrocephalosyndactyly type I.
  • The presence of significant skin abnormalities (horny bands, acne) alongside typical craniofacial and limb malformations was noted.
  • Normal intellectual development in the context of severe physical anomalies was a key finding.

Implications:

  • This case underscores the importance of recognizing the diverse clinical manifestations of acrocephalosyndactyly type I, including associated dermatological conditions.
  • Understanding the genetic basis and inheritance patterns (autosomal dominant, sporadic) is crucial for genetic counseling and family planning.
  • Further research into genotype-phenotype correlations may elucidate the variability in presentation and long-term outcomes for individuals with ACS I.

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