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Primary pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congential malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life.
Features include: Pulmonary hypoplasia.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Lungs and breathing | 1 | Pulmonary hypoplasia |
Biomarker and diagnostic research for familial primary pulmonary hypoplasia has been reported in the published literature.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for familial primary pulmonary hypoplasia.
48 publications have been identified in PubMed for familial primary pulmonary hypoplasia. Research spans Case Report / Case Series (65%), Basic Science / Preclinical (13%), and Epidemiology / Natural History (10%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 31 | 65% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:41 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Laboratory research
6 |
13% |
Disease patterns and progression | 5 | 10% |
Research summaries | 4 | 8% |
Testing and diagnosis research | 1 | 2% |
Clinical study results | 1 | 2% |
Pham B (2026). [PMID: 41785017](https://pubmed.ncbi.nlm.nih.gov/41785017/). *Am J Physiol Lung Cell Mol Physiol*. [Basic Science / Preclinical]
Vora V (2026). [PMID: 41637242](https://pubmed.ncbi.nlm.nih.gov/41637242/). *World journal for pediatric & congenital heart surgery*. [Case Report / Case Series]
Mishra N (2026). [PMID: 41535878](https://pubmed.ncbi.nlm.nih.gov/41535878/). *Journal of medical case reports*. [Case Report / Case Series]
Gupta D (2026). [PMID: 40928834](https://pubmed.ncbi.nlm.nih.gov/40928834/). *Tropical doctor*. [Case Report / Case Series]
Sakai R (2026). [PMID: 41782239](https://pubmed.ncbi.nlm.nih.gov/41782239/). *Cardiology in the young*. [Clinical Trial Publication]
Peixoto J (2026). [PMID: 40675190](https://pubmed.ncbi.nlm.nih.gov/40675190/). *European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie*. [Epidemiology / Natural History]
Masui Y (2026). [PMID: 40927909](https://pubmed.ncbi.nlm.nih.gov/40927909/). *Journal of clinical ultrasound : JCU*. [Case Report / Case Series]
Nipper D (2026). [PMID: 41748214](https://pubmed.ncbi.nlm.nih.gov/41748214/). *Neonatal network : NN*. [Case Report / Case Series]
Rana T (2025). [PMID: 41202737](https://pubmed.ncbi.nlm.nih.gov/41202737/). *Best practice & research. Clinical obstetrics & gynaecology*. [Review / Meta-Analysis]
Gipsman AI (2025). [PMID: 40447132](https://pubmed.ncbi.nlm.nih.gov/40447132/). *The Journal of pediatrics*. [Review / Meta-Analysis]
AI-curated news mentioning familial primary pulmonary hypoplasia
Updated Aug 1, 2026
Recent research highlights the mechanisms underlying pulmonary hypoplasia, a condition characterized by underdeveloped lungs. This study provides insights that could inform future therapeutic strategies.