Pulse Brain · Growing Health Evidence Index
Tier 4 — Narrative / commentaryPeer-reviewed

Neonatal Chylothorax and Dysmorphic Phenotype: A Noonan Syndrome?

Sara Suárez-Cabezas, Daniel Natera‐de Benito, Pilar Pérez-Segura, Lucia Llorente-Otones, María José Alcázar Villar, María José Rivero-Martin Mj

Journal of Rare Disorders: Diagnosis & Therapy · 2016

All evidence

Summary

This 2016 case report describes a neonatal patient presenting with chylothorax in association with dysmorphic features characteristic of Noonan syndrome, a relatively rare genetic disorder affecting development and physiology. The paper documents clinical findings and diagnostic assessment as suggested by the phenotypic presentation. The work contributes to clinical recognition of rare paediatric presentations and their syndromic associations.

UK applicability

The findings are relevant to UK neonatal and paediatric clinical practice, particularly for clinicians managing rare genetic disorders and congenital thoracic conditions. The case may inform diagnostic approaches in NHS settings where Noonan syndrome is suspected.

Key measures

Clinical presentation, morphological features, imaging findings, and diagnostic markers consistent with Noonan syndrome

Outcomes reported

The study reports clinical presentation and diagnostic findings in a neonatal case presenting with chylothorax (accumulation of lymphatic fluid in the thoracic cavity) alongside dysmorphic phenotypic features suggestive of Noonan syndrome.

Theme
Nutrition & health
Subject
Maternal, infant & child nutrition
Study type
Commentary
Study design
Case report
Source type
Peer-reviewed study
Status
Published
System type
Human clinical
Catalogue ID
BFmobghmtt-fi0oz1

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