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Opitz trigonocephaly syndrome.

T Haaf1, R Hofmann, M Schmid

  • 1Department of Genetics, Stanford University School of Medicine, CA 94305.

American Journal of Medical Genetics
|September 15, 1991
PubMed
Summary
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Opitz trigonocephaly syndrome is a rare genetic disorder characterized by distinctive facial features and developmental delays. This case highlights a complex presentation including cardiovascular defects in a patient with this syndrome.

Area of Science:

  • Genetics and Developmental Biology
  • Pediatric Medicine
  • Clinical Dysmorphology

Background:

  • Opitz trigonocephaly syndrome is a rare genetic disorder associated with craniofacial abnormalities.
  • Understanding the phenotypic spectrum and associated anomalies is crucial for diagnosis and management.

Observation:

  • A case report detailing a female infant, the first child of consanguineous parents, presenting with Opitz trigonocephaly syndrome.
  • The patient exhibited trigonocephaly, hypertelorism, upslanted palpebral fissures, strabismus, a small nose with a broad root, and abnormally modeled ears.
  • Additional features included a high palate, short neck with loose skin, polysyndactyly, prominent genitalia, and Eisenmenger disease, alongside mental retardation.

Findings:

  • The patient presented with a constellation of severe congenital anomalies consistent with Opitz trigonocephaly syndrome.

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  • The co-occurrence of a complex cardiovascular defect (Eisenmenger disease) and significant developmental delay was noted.
  • Consanguinity in the parents was a relevant factor in the genetic etiology.

    • Implications:

    • This case expands the known phenotypic variability of Opitz trigonocephaly syndrome.
    • Highlights the importance of thorough cardiovascular and neurological evaluation in affected individuals.
    • Emphasizes the need for genetic counseling and family planning in cases of consanguinity and rare genetic disorders.