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Peters anomaly in association with multiple midline anomalies and a familial chromosome 4 inversion

Edward Neilan1, Yana Pikman, Virginia E Kimonis

  • 1Division of Genetics, Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.

Ophthalmic Genetics
|June 7, 2006
PubMed

Insights

This study details a boy with Peters anomaly and midline defects, including a cranial meningocele, a novel association. Genetic analysis identified a chromosome 4 inversion, differentiating it from Peters Plus syndrome.

Area of Science:

  • Ophthalmology
  • Genetics
  • Developmental Biology

Background:

  • Peters anomaly is a rare congenital eye disorder affecting the cornea.
  • Midline defects can occur in various genetic syndromes, impacting multiple organ systems.

Observation:

  • A pediatric case presenting with Peters anomaly, left eye cataract, and multiple midline developmental abnormalities.
  • Extraocular findings included cleft lip/palate, cardiac defects, cranial meningocele, and left ear malformation with otitis media.

Findings:

  • Genetic analysis revealed a balanced paracentric inversion on chromosome 4 (inv(4)(q12q13.3)).
  • This chromosomal abnormality was also found in unaffected family members.
  • The patient's normal stature and cognition distinguished the condition from Peters Plus syndrome.

Implications:

  • The cranial meningocele represents a newly described association with Peters anomaly.
  • This case expands the understanding of phenotypic variability in chromosomal abnormalities.
  • Highlights the importance of genetic analysis in differentiating congenital anomalies.

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