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Autosomal dominant microcephaly with mental retardation.

E Bawle1, M Horton

  • 1Department of Pediatrics, Wayne State University, Detroit.

American Journal of Medical Genetics
|July 1, 1989
PubMed
Summary

This study reports a rare autosomal dominant form of microcephaly causing mild to moderate intellectual disability. Affected family members exhibit distinct facial features and developmental delays, differing from previously documented cases.

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Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • Microcephaly is a condition characterized by a smaller than normal head circumference.
  • Intellectual disability encompasses deficits in intellectual and adaptive functioning.
  • Autosomal dominant inheritance patterns involve a single gene mutation passed from one parent.

Observation:

  • A family presented with three affected members: a 3-year-old girl, her mother, and maternal uncle.
  • All individuals exhibited microcephaly and varying degrees of mental retardation.
  • Distinct facial dysmorphisms included deep-set eyes, short philtrums, and a beaked nose.

Findings:

  • The 3-year-old girl demonstrated a developmental quotient of 55.
  • The mother had normal phenylalanine levels, ruling out phenylketonuria.

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  • Chromosomal analysis in the child was normal, suggesting a specific genetic mutation.
  • This case represents a potential first report of autosomal dominant microcephaly with mild to moderate intellectual disability.

    • Implications:

    • This finding expands the known spectrum of microcephaly and intellectual disability phenotypes.
    • Understanding the genetic basis of this condition is crucial for accurate diagnosis and genetic counseling.
    • Further research into the specific gene responsible may reveal novel pathways involved in brain development.