What is the management and treatment for hypoplastic ribs?

Management and Treatment of Hypoplastic Ribs

Hypoplastic ribs are a structural skeletal abnormality that typically occurs as part of complex congenital syndromes and requires syndrome-specific multidisciplinary management rather than isolated rib treatment, with surgical intervention reserved for severe thoracic insufficiency syndrome causing respiratory compromise.

Clinical Context and Associated Syndromes

Hypoplastic ribs do not occur in isolation but are a feature of several serious congenital conditions:

• 22q11.2 Deletion Syndrome: Hypoplastic ribs may present as a minor skeletal anomaly alongside supernumerary ribs, butterfly vertebrae, and cervical vertebral anomalies 1
• Short-Rib-Polydactyly Syndrome (SRPS): Characterized by hypoplastic thorax, short ribs, short limbs, polydactyly, and visceral abnormalities—this is a lethal skeletal dysplasia 2, 3
• Asphyxiating Thoracic Dystrophy (Jeune Syndrome): Features hypoplastic lungs, abnormal phospholipid content, and reduced chest size due to slower rib growth 4

Primary Management Strategy

Syndrome-Specific Multidisciplinary Care

The management approach depends entirely on the underlying syndrome and associated complications:

• For 22q11.2 Deletion Syndrome: Coordinate care across multiple subspecialties including genetics, cardiology, immunology, endocrinology, and developmental services, as hypoplastic ribs are a minor feature requiring no specific intervention 1
• Monitor for associated life-threatening complications including cardiac anomalies, immunodeficiency, endocrine dysfunction, and developmental delays that require immediate attention 1

Respiratory Assessment and Monitoring

The critical determinant for intervention is thoracic insufficiency syndrome—the inability of the thorax to support normal respiration and lung growth:

• Assess respiratory function through crying vital capacity, peak flow rate, and oxygen saturation 4
• Obtain chest radiographs and ventilation-perfusion nuclear scans to evaluate for hypoplastic lungs 4
• Monitor for progressive respiratory compromise, particularly in the first year of life when mortality risk is highest 5

Surgical Intervention: VEPTR Device

Surgical reconstruction with the Vertical Expandable Prosthetic Titanium Rib (VEPTR) is indicated only for severe hypoplastic chest wall deformity causing thoracic insufficiency syndrome:

Indications for VEPTR Surgery

• Severe complex hypoplastic chest wall and spine deformity 5
• Documented thoracic insufficiency syndrome with respiratory compromise 5
• Progressive respiratory failure despite medical management 5

Critical Risks and Mortality Data

Families must be counseled about substantial perioperative mortality, particularly in Jeune syndrome:

• 9% mortality rate in patients with hypoplastic chest wall deformity (Jeune and Jarcho-Levin syndromes) undergoing VEPTR surgery 5
• All deaths occurred in Jeune syndrome patients (4 of 19 patients, 21% mortality) 5
• Majority of deaths occur within 1 year of surgery: 2 deaths within 6 months, 2 within 1 year 5
• Causes of death include respiratory complications (50%), renal failure (25%), and liver failure (25%) 5
• Additional 9% experienced life-threatening adverse events including necrotizing enterocolitis and acute respiratory distress syndrome 5

Surgical Timing

• Consider VEPTR placement early in infancy when thoracic insufficiency is documented, as the device allows for chest wall expansion during growth 5
• Balance surgical risks against natural history of untreated thoracic insufficiency, which may lead to premature death from respiratory failure 5

Conservative Management

For hypoplastic ribs without thoracic insufficiency syndrome, no specific rib-directed treatment is required:

• Focus on managing associated syndrome features and complications 1
• Provide supportive respiratory care including pulmonary hygiene and monitoring for infections 4
• Regular developmental and subspecialty follow-up as dictated by the underlying syndrome 1

Prenatal Diagnosis and Counseling

• Hypoplastic ribs associated with lethal skeletal dysplasias can be detected prenatally via ultrasonography 2, 3
• Serial measurements of thoracic-to-abdominal circumference ratio and limb lengths help establish diagnosis 2
• Increased nuchal translucency at 13 weeks may be an early marker in high-risk families 3
• Recurrence risk is 25% for autosomal recessive conditions like short-rib-polydactyly syndrome 2

Critical Pitfalls to Avoid

• Do not pursue isolated rib surgery without addressing the underlying syndrome and thoracic insufficiency 5
• Do not underestimate perioperative mortality risk in Jeune syndrome—ensure families understand the 21% mortality rate 5
• Do not delay genetic evaluation and counseling when hypoplastic ribs are identified, as this guides prognosis and family planning 1, 2
• Do not assume hypoplastic ribs are the primary problem—focus on life-threatening cardiac, immunologic, and respiratory complications that drive morbidity and mortality 1, 5