A gap in the roof of the mouth (cleft palate) or other problems with the palate.Certain facial features, such as an underdeveloped chin, low-set ears, wide-set eyes or a narrow groove in the upper lip.Heart murmur and bluish skin due to poor circulation of oxygen-rich blood (cyanosis) as a result of a heart defect.Signs and symptoms may include some combination of the following: Some signs and symptoms may be apparent at birth, but others may not appear until later in infancy or early childhood. We would love to hear from you.Signs and symptoms of DiGeorge syndrome (22q11.2 deletion syndrome) can vary in type and severity, depending on what body systems are affected and how severe the defects are. Do not be surprised by difficult intubation and difficult mask ventilation.Do plan an anesthetic that results in calm, spontaneous breathing with a patent airway after the procedure.Do have a formal cardiac evaluation for patients with choanal atresia.Supportive education to improve cognitive development.Hearing aids or implants to improve hearing loss.Ventilator or CPAP to improve breathing difficulties or obstructive sleep apnea.Occupational, physical, or speech therapy.Surgery to repair cleft lip or palate, cardiovascular problems, or atresia.Treatment is unique per patient and focuses on improving symptoms In rare cases, patients do not have a CHD7 mutation or have a mutation of another gene in their DNA.A genetic mutation of the CHD7 gene on chromosome 8, autosomal dominant inheritance.Neck/shoulder anomalies: Sloping, Sprengel’s deformity, kyphosis Hand anomalies Fifth finger clinodactyly, camptodactyly, and cutaneous syndactyly Spinal anomalies: Scoliosis, osteoporosis Renal anomalies: Duplex system, vesicoureteric reflux Reflux esophagitis, feeding/swallowing problemsĭistinctive CHARGE facies: Square face, broad forehead, arched eyebrows, large eyes, droopy eyelids, small mouth and chin, asymmetrical faceĭevelopmental delay: Delayed motor milestones, language delay, mental retardationĮducational, behavioral, social adjustment issues, autistic-like problems, obsessive compulsive disorders, ADHD Tracheoesophageal defects: Tracheoesophageal fistula Pubertal delay, hormone replacement, fertility (unsure), hypogonadotrophic hypogonadism, osteoporosis Genital hypoplasia or delayed pubertal development: Micropenis and cryptorchidism (males), hypoplastic labia (females) Progressive hearing loss, chronic middle ear infections, vestibular problems affecting balance and/or motor skillsĬardiovascular malformations: Tetralogy of Fallot, ventricular septal defect, atriventricular canal defect, and aortic arch anomaliesĪrrhythmias, angina, further cardiac surgeries Photophobia, retinal detachment, corneal abrasionsįacial growth problems, recurrent closure and resurgeries, unilateral nasal dischargeįeeding/swallowing problems, gastroesophageal reflux, hiatus herniaĪbnormalities of the inner, middle, or external ear ![]() Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome Features of CHARGE syndrome These features are no longer used in making the diagnosisĭiagnosis, signs and symptoms, and complications.G: G enital and/or urinary abnormalities (e.g., hypogonadism).R: R etardation of growth and development.H: H eart defects (e.g., most common tetralogy of Fallot, ventricular septal defect, atrioventricular canal defect, and aortic arch anomalies).CHARGE syndrome is a rare genetic syndrome with a known pattern of features.Anesthetic management of a pediatric patient with CHARGE syndrome. ![]()
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