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Fryns anophthalmia-plus syndrome with hypoplastic adrenal glands

O Ozalp1, E E Ozcimen, Z Yilmaz

  • 1Baskent University Faculty of Medicine, Department of Medical Genetics, Ankara, Turkey.

Genetic Counseling (Geneva, Switzerland)
|June 21, 2008
PubMed

Insights

This study describes a family with two affected siblings exhibiting anophthalmia and cleft lip and palate. Autosomal recessive inheritance is suspected, highlighting the importance of genetic counseling for rare congenital anomalies.

Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Ophthalmology

Background:

  • Anophthalmia and cleft lip and palate are severe congenital anomalies with complex etiologies.
  • Consanguineous marriages can increase the risk of autosomal recessive disorders.
  • Early prenatal diagnosis is crucial for managing genetic conditions.

Observation:

  • A family presented with two siblings affected by anophthalmia and cleft lip and palate.
  • Prenatal diagnosis at 23 weeks gestation identified severe fetal anomalies.
  • Post-mortem examination revealed pre-maxilla agenesis, anophthalmia, cerebral ventricular dilatation, adrenal hypoplasia, and a single umbilical artery.

Findings:

  • Karyotype analysis of the fetus and parents showed normal results, ruling out chromosomal abnormalities.
  • The observed pattern of inheritance in affected siblings suggested an autosomal recessive mode of transmission.
  • Multiple congenital anomalies were present, indicating a potential syndromic presentation.

Implications:

  • This case underscores the potential for autosomal recessive inheritance in families with multiple occurrences of anophthalmia and cleft lip and palate.
  • Genetic counseling is vital for informing families about recurrence risks and management options.
  • Further research into the genetic basis of these combined anomalies is warranted.

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