Multiple pterygium syndrome lethal type
Overview
A rare syndrome characterized by skin, muscle and skeletal anomalies and fetal death.
Symptoms
* Fetal growth deficiency * Epicanthal folds * Widely spaced eyes * Flat nose * Cleft palate * Small mouth * Small lower jaw * Down-slanting palpebral fissures * Low-set ears * Malformed ears * Flexion contractures of elbows * Flexion contractures of shoulders * Flexion contractures of hips * Flexion contractures of knees * Flexion contractures of ankles * Flexion contractures of hands * Flexion contractures of feet * Triangular skin membrane from chin to sternum * Cervical pterygium * Axillary pterygium * Antecubital pterygium * Crural pterygium * Popliteal pterygium * Ankle pterygium * Neck edema * Loose neck skin * Small chest * Undescended testes * Hypoplastic dermal ridges * Hypoplastic dermal creases * Underdeveloped vertebrae * Underdeveloped sacrum * Underdeveloped ileum * Underdeveloped ischium * Underdeveloped ribs * Underdeveloped clavicle * Underdeveloped scapula * Long bones * Thin bones
Causes
ARF may develop in patients with COPD as a result of any condition that increases the work of breathing and decreases the respiratory drive. Such conditions include respiratory tract infection (such as bronchitis or pneumonia). The most common precipitating factor is bronchospasm, or accumulating secretions secondary to cough suppression. Other causes of ARF in COPD include: * central nervous system (CNS) depression — head trauma or injudicious use of sedatives, opioids, tranquilizers, or oxygen (O2) * cardiovascular disorders — myocardial infarction, heart failure, or pulmonary emboli * airway irritants — smoke or fumes * endocrine and metabolic disorders — myxedema or metabolic alkalosis * thoracic abnormalities — chest trauma, pneumothorax, or thoracic or abdominal surgery. The incidence of ARF increases markedly with age and is especially high among people age 65 and older
Prognosis
The condition is generally lethal in utero.
Treatment
ARF in patients with COPD is an emergency that requires cautious O2 therapy (using nasal prongs or Venturi mask) to raise the PaO2. In patients with chronic hypercapnia, O2 therapy can cause hypoventilation by increasing Paco2 and decreasing the respiratory drive, necessitating mechanical ventilation. The minimum fraction of inspired air (FIO2) required to maintain ventilation or O2 saturation greater than 85% to 90% should be used. If significant uncompensated respiratory acidosis or unrefractory hypoxemia exists, mechanical ventilation (through an endotracheal [ET] or a tracheostomy tube) or noninvasive ventilation (with a face or nose mask) may be necessary. Treatment routinely includes antibiotics for infection, bronchodilators, and possibly steroids.