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[Acrocephalosyndactyly I (Apert syndrome)].
1Hautklinik im Klinikum Frankfurt.
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.
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.