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Related Experiment Videos

Oculo-palatal-cerebral syndrome: a second case.

J E Pellegrino1, J M Engel, D Chavez

  • 1Department of Obstetrics, Gynecology, and Reproductive Sciences, Division of Clinical Genetics, UMDNJ-Robert Wood Johnson Medical School, New Brunswick, New Jersey 08903, USA. pellegje@umdnj.edu

American Journal of Medical Genetics
|March 10, 2001
PubMed
Summary
This summary is machine-generated.

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Oculo-palato-cerebral syndrome is a rare genetic disorder. This report details a second case with milder symptoms, suggesting variable expressivity and aiding in understanding this condition.

Area of Science:

  • Genetics
  • Rare Diseases
  • Pediatric Neurology

Background:

  • Oculo-palato-cerebral syndrome is an extremely rare disorder.
  • Previously reported in one consanguineous family, suggesting autosomal recessive inheritance.

Observation:

  • A 2-year-old boy presented with growth delay, microcephaly, bilateral persistent hyperplastic primary vitreous, microphthalmia, distinctive ear morphology, small extremities, cleft palate, joint hypermobility, and hypoplastic nails.
  • Brain MRI revealed frontal cerebral atrophy and corpus callosum thinning.

Findings:

  • The patient exhibited milder features compared to previously documented cases.
  • This case expands the clinical spectrum of Oculo-palato-cerebral syndrome.

Implications:

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  • Further research is needed to elucidate the genetic basis and inheritance patterns.
  • Understanding variable expressivity is crucial for accurate diagnosis and management of rare genetic disorders.