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Bartsocas-Papas syndrome.

Koumudi Godbole¹, Vijayashree Bhide, Girish Godbole

¹Department of Genetic Medicine, Deenanath Mangeshkar Hospital and Research Center, Pune, Maharashtra, India. koumudig@rediffmail.com

Indian Pediatrics

|September 30, 2008

Summary

This study describes three siblings with Bartsocas Papas Syndrome from a consanguineous Indian family. Severe oligohydramnios complicated all pregnancies, an unusual presentation for this genetic disorder.

Area of Science:

Medical Genetics
Reproductive Medicine
Pediatric Neurology

Background:

Bartsocas Papas Syndrome is a rare autosomal recessive developmental disorder.
Genetic counseling is important for consanguineous families with recurrent genetic conditions.
Oligohydramnios can indicate fetal distress and impact neonatal outcomes.

Observation:

Three siblings from a consanguineous Indian family presented with Bartsocas Papas Syndrome.
All three pregnancies were complicated by severe oligohydramnios.
This observation is atypical for the known clinical spectrum of Bartsocas Papas Syndrome.

Findings:

The affected siblings exhibited clinical features consistent with Bartsocas Papas Syndrome.
Severe oligohydramnios was a consistent finding across all affected pregnancies.

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The co-occurrence of severe oligohydramnios and Bartsocas Papas Syndrome suggests a potential genotype-phenotype correlation or a novel presentation.

Implications:

This case highlights the importance of considering rare genetic syndromes in consanguineous populations.
The presence of severe oligohydramnios may warrant closer prenatal monitoring in families with a history of Bartsocas Papas Syndrome.
Further research is needed to understand the underlying mechanisms linking Bartsocas Papas Syndrome and severe oligohydramnios.