Congenital Dwarfism and Adult-Onset Diagnosis of Cystic Fibrosis in a Patient with Recurrent Pneumonia: A Rare Clinical Association
Recommended Citation
Al-Antary N, Alali M, Naveed AK, Lopez J, Harinandan S. Congenital Dwarfism and Adult-Onset Diagnosis of Cystic Fibrosis in a Patient with Recurrent Pneumonia: A Rare Clinical Association. Am J Respir Crit Care Med 2026; 212:1.
Document Type
Conference Proceeding
Publication Date
5-15-2026
Publication Title
Am J Respir Crit Care Med
Keywords
General & Internal Medicine, Respiratory System
Abstract
Introduction: Cystic fibrosis (CF) is a multisystem genetic disorder characterized by chronic respiratory disease, pancreatic insufficiency, and frequent growth impairment. While short stature and delayed linear growth are well-documented complications of CF, the co-occurrence of medically defined dwarfism, characterized by severe disproportionate short stature due to genetic or endocrine etiologies, is exceptionally rare and has not been widely reported in the literature. Here, we present a case of a male patient with known congenital dwarfism who was diagnosed with adult-onset cystic fibrosis.
Case Presentation: A 37-year-old male with a history of congenital dwarfism, hypertension, and renal transplant with CKD stage 3b of unknown etiology presented with progressive shortness of breath, productive cough, and signs consistent with acute on chronic hypoxemic respiratory failure. He had a longstanding history of recurrent pneumonia with bronchiectasis and Pseudomonas aeruginosa colonization confirmed on bronchoscopy. Immunodeficiency workup was negative. Given the chronicity and severity of his pulmonary symptoms, genetic testing for cystic fibrosis was performed and confirmed a pathogenic CFTR mutation (c.489 + 3A>G, also known as 621 + 3A→G, GRCh38 chr7:117531117; ClinVar ID: 53971). The patient’s hospitalization was managed with broad-spectrum antibiotics (piperacillin-tazobactam), ipratropium and albuterol nebulizers, and budesonide inhaler, along with supportive measures including BiPAP and pulmonary hygiene. He demonstrated gradual improvement and was discharged in stable condition with close outpatient follow-up arranged at a specialized cystic fibrosis clinic for multidisciplinary management.
Discussion: This case underscores the rarity of the association between dwarfism and cystic fibrosis. Although growth retardation and reduced adult height are common in CF due to multifactorial mechanisms—including malnutrition, chronic inflammation, and endocrine dysfunction—true congenital dwarfism or skeletal dysplasia is not a typical manifestation. Clinicians should maintain a high index of suspicion for CF in patients with unexplained pulmonary disease, regardless of stature. The coexistence of both conditions in this patient suggests possible additive or synergistic effects on growth impairment and highlights the importance of comprehensive endocrine evaluation in CF patients with severe short stature. Recognition of this rare association may inform future research into the mechanisms of growth failure in CF and guide multidisciplinary management.
Volume
212
First Page
1
