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PedAM

Pediatric Disease Annotations & Medicines




Disease microcephaly
Phenotype C0020224|polyhydramnios
Sentences 1
PubMedID- 24055730 We review the literature of chromosome 17p13.3 deletion syndrome with prenatal findings and diagnosis, and suggest that prenatal ultrasound detection of central nervous system anomalies such as lissencephaly, corpus callosum dysgenesis/agenesis, ventriculomegaly and microcephaly associated with iugr, polyhydramnios, congenital heart defects, abdominal wall defects and renal abnormalities should include a differential diagnosis of chromosome 17p13.3 deletion syndrome.

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