Congenital Central Hypoventilation Syndrome Latest Advances

Hirschsprung Disease on Fetal Autopsy Leading to the Diagnosis of Congenital Central Hypoventilation Syndrome in a Stillborn Fetus.

Journal: Clinical genetics

Published: September 30, 2025

A Rare Co-Occurrence of Gastric Heterotopia and Autonomic Nervous System Dysfunction: An Attempt to Explain If There Is a Need to Explore Possible Syndromic Link.

Journal: Journal of medical cases

Published: August 09, 2025

Central hypoventilation with PHOX2B expansion mutation presenting in adulthood.

Journal: BMJ case reports

Published: August 09, 2025

Novel Pulmonary Manifestations in Pediatric Late-Onset Congenital Central Hypoventilation Syndrome: A Case Series of PHOX2B-Associated Pulmonary Hypertension and Pulmonary Alveolar Hemorrhage.

Journal: Pediatric pulmonology

Published: August 06, 2025

Cesarean delivery with low-dose combined spinal epidural in a patient with congenital central hypoventilation syndrome: a case report.

Journal: International journal of obstetric anesthesia

Published: July 02, 2025

PHOX2B deletion in congenital central hypoventilation syndrome: is this sufficient for pathogenesis?

Journal: Journal of human genetics

Published: May 10, 2025

Ventilatory Complexity Persists in Phox2b Mutant Mice Lacking the Retrotrapezoid Nucleus/Parafacial Respiratory Group (RTN/pFRG) and in Humans With Congenital Central Hypoventilation Syndrome.

Journal: The Journal of comparative neurology

Published: May 10, 2025

Respiratory events and sleep structure of children suffering from congenital central hypoventilation syndrome under assisted ventilation: a cross-sectional descriptive study.

Journal: Sleep & breathing = Schlaf & Atmung

Published: April 30, 2025

The PHOX2B c.428A>G missense variant affects post-transcriptional regulation and may explain the absence of neural crest-derived tumors in congenital central hypoventilation syndrome.

Journal: Frontiers in physiology

Published: April 23, 2025

A familial case of congenital central hypoventilation syndrome due to a combination of polyalanine repeat mutation and novel nonpolyalanine repeat mutation.

Journal: Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine

Published: March 25, 2025

Images: Atypical resolution of sleep-related hypoventilation in congenital central hypoventilation syndrome.

Journal: Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine

Published: March 21, 2025

Current Status and Challenges of Diaphragm Pacing in Japan: A Systematic Review of Case Reports.

Journal: Cureus

Published: March 18, 2025

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Hirschsprung Disease on Fetal Autopsy Leading to the Diagnosis of Congenital Central Hypoventilation Syndrome in a Stillborn Fetus.

Hirschsprung Disease on Fetal Autopsy Leading to the Diagnosis of Congenital Central Hypoventilation Syndrome in a Stillborn Fetus.

A Rare Co-Occurrence of Gastric Heterotopia and Autonomic Nervous System Dysfunction: An Attempt to Explain If There Is a Need to Explore Possible Syndromic Link.

A Rare Co-Occurrence of Gastric Heterotopia and Autonomic Nervous System Dysfunction: An Attempt to Explain If There Is a Need to Explore Possible Syndromic Link.

Central hypoventilation with PHOX2B expansion mutation presenting in adulthood.

Central hypoventilation with PHOX2B expansion mutation presenting in adulthood.

Novel Pulmonary Manifestations in Pediatric Late-Onset Congenital Central Hypoventilation Syndrome: A Case Series of PHOX2B-Associated Pulmonary Hypertension and Pulmonary Alveolar Hemorrhage.

Novel Pulmonary Manifestations in Pediatric Late-Onset Congenital Central Hypoventilation Syndrome: A Case Series of PHOX2B-Associated Pulmonary Hypertension and Pulmonary Alveolar Hemorrhage.

Cesarean delivery with low-dose combined spinal epidural in a patient with congenital central hypoventilation syndrome: a case report.

Cesarean delivery with low-dose combined spinal epidural in a patient with congenital central hypoventilation syndrome: a case report.

PHOX2B deletion in congenital central hypoventilation syndrome: is this sufficient for pathogenesis?

PHOX2B deletion in congenital central hypoventilation syndrome: is this sufficient for pathogenesis?

Ventilatory Complexity Persists in Phox2b Mutant Mice Lacking the Retrotrapezoid Nucleus/Parafacial Respiratory Group (RTN/pFRG) and in Humans With Congenital Central Hypoventilation Syndrome.

Ventilatory Complexity Persists in Phox2b Mutant Mice Lacking the Retrotrapezoid Nucleus/Parafacial Respiratory Group (RTN/pFRG) and in Humans With Congenital Central Hypoventilation Syndrome.

Respiratory events and sleep structure of children suffering from congenital central hypoventilation syndrome under assisted ventilation: a cross-sectional descriptive study.

Respiratory events and sleep structure of children suffering from congenital central hypoventilation syndrome under assisted ventilation: a cross-sectional descriptive study.

The PHOX2B c.428A>G missense variant affects post-transcriptional regulation and may explain the absence of neural crest-derived tumors in congenital central hypoventilation syndrome.

The PHOX2B c.428A>G missense variant affects post-transcriptional regulation and may explain the absence of neural crest-derived tumors in congenital central hypoventilation syndrome.

A familial case of congenital central hypoventilation syndrome due to a combination of polyalanine repeat mutation and novel nonpolyalanine repeat mutation.

A familial case of congenital central hypoventilation syndrome due to a combination of polyalanine repeat mutation and novel nonpolyalanine repeat mutation.

Images: Atypical resolution of sleep-related hypoventilation in congenital central hypoventilation syndrome.

Images: Atypical resolution of sleep-related hypoventilation in congenital central hypoventilation syndrome.

Current Status and Challenges of Diaphragm Pacing in Japan: A Systematic Review of Case Reports.

Current Status and Challenges of Diaphragm Pacing in Japan: A Systematic Review of Case Reports.