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Related Experiment Video

Updated: Jun 2, 2026

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues

Published on: October 20, 2019

MPPH syndrome: two new cases.

Wendy L Osterling¹, Richard S Boyer, Gary L Hedlund

¹Department of Pediatrics, the University of Utah School of Medicine, Salt Lake City, Utah, USA.

Pediatric Neurology

|April 13, 2011

Summary

This summary is machine-generated.

This study reports two new cases of a rare infant syndrome involving megalencephaly and perisylvian polymicrogyria. A significant finding is the unexpected development of medulloblastoma in one child.

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Last Updated: Jun 2, 2026

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues

Published on: October 20, 2019

Area of Science:

Medical Genetics
Pediatric Neurology
Developmental Biology

Background:

Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus syndrome is a rare genetic disorder.
The syndrome affects infants and young children, presenting with macrocrania, developmental delay, and epilepsy.

Observation:

Two additional cases of this rare syndrome were identified.
One child developed medulloblastoma, a previously undocumented feature of this condition.

Findings:

The syndrome is characterized by macrocephaly, developmental delay, and hydrocephalus.
Medulloblastoma emerged as a novel, serious complication in one patient.

Implications:

This expands the known clinical spectrum of megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus syndrome.
Further research is needed to determine the genetic cause and optimal management strategies for this syndrome and its complications.