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Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: a distinct MCA/MR syndrome

André Mégarbané1, Eliane Chouery, Cécile Mignon-Ravix

  • 1Unité de Génétique Médicale et Laboratoire Associé INSERM UMR_S, Université Saint-Joseph, Beirut, Lebanon. megarbane@usj.edu.lb

American Journal of Medical Genetics. Part A
|April 6, 2011
PubMed

Insights

Two siblings presented with severe congenital anomalies and died in infancy. Genetic analysis revealed deletions on chromosomes 4 and 5, but these were also present in a healthy sibling, suggesting a complex genetic etiology.

Area of Science:

  • Genetics
  • Pediatrics
  • Neurology

Background:

  • Congenital anomalies can present with a wide spectrum of clinical features.
  • Genetic factors play a crucial role in the development of syndromic conditions.

Observation:

  • Two siblings exhibited hypotonia, ambiguous genitalia, microcephaly, ptosis, microretrognathia, thin lips, seizures, absent pubic rami ossification, and brain abnormalities on MRI.
  • Both siblings unfortunately passed away at 5 and 8 months of age.

Findings:

  • Standard molecular analysis of SOX9, ARX, and DHCR7 genes yielded normal results.
  • Comparative genomic hybridization (CGH)-array analysis identified deletions on chromosome 4 (paternally inherited) and chromosome 5 (maternally inherited) in the younger sibling.
  • The same chromosomal deletions were detected in their apparently healthy sister.

Implications:

  • The presence of identical deletions in affected siblings and a healthy sibling complicates the interpretation of these findings.
  • These results suggest a potential novel genetic syndrome or a complex inheritance pattern for the observed phenotype.
  • Further investigation is warranted to elucidate the precise genetic mechanisms and potential modifier genes involved.

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