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Case of polyhydramnios complicated by Opitz G/BBB syndrome

Hiroko Tajima1, Hiroaki Itoh, Ayako Mochizuki

  • 1Department of Obstetrics and Gynecology, Hamamatsu University School of Medicine, Hamamatsu, Japan.

The Journal of Obstetrics and Gynaecology Research
|July 30, 2010
PubMed

Insights

Opitz G/BBB syndrome, a congenital midline defect disorder, can cause severe dysphagia leading to polyhydramnios in male fetuses. Maternal hypertelorism may indicate a risk for this condition in male infants.

Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Congenital Disorders

Background:

  • Opitz G/BBB syndrome is a congenital disorder characterized by midline defects and dysphagia.
  • Dysphagia in this syndrome is often linked to laryngo-tracheo-esophageal abnormalities.

Observation:

  • A case of polyhydramnios in a male dichorionic diamniotic twin is presented.
  • The affected twin was diagnosed with Opitz G/BBB syndrome postnatally.

Findings:

  • Severe dysphagia in the affected twin is suggested as the cause of polyhydramnios.
  • Opitz G/BBB syndrome typically affects males more severely than females.

Implications:

  • Considering maternal hypertelorism in the differential diagnosis of unexplained polyhydramnios in male fetuses is recommended.
  • This highlights a potential prenatal indicator for Opitz G/BBB syndrome in male infants.

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