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Achondroplasia is the most common form of short-limbed dwarfism. It is characterized by short-limbed dwarfism, macrocephaly, frontal bossing, a low nasal bridge, and midface hypoplasia. Skeletal malformations may include brachydactyly, lordosis, genu varum, and/or stenosis of the spine. Additional abnormalities may include limited extension of the elbows and hips, hypotonia, and frequent otitis media. In most cases achondroplasia appears sporadically.

Achondroplasia appears to occur sporadically with no apparent family history. However, the possibility of familial transmission has been suggested, and inheritance as an autosomal dominant pattern with new dominant gene mutations has been reported. Advanced paternal age may be a contributing factor in cases of sporadic achondroplasia. In the absence of mutations, familial cases of achondroplasia have been reported as autosomal dominant inheritance but are much less common. Specific mutations of a gene known as fibroblast growth factor receptor (FGFR)-3 are possible. The FGFR-3 gene is located on chromosome 4 (4p16.3).

Achondroplasia is a rare genetic disorder characterized by macrocephaly, frontal bossing, and depressed nasal bridge. The arms and legs usually are very short, and the trunk appears long in comparison. Rhizomelic dwarfism, unusually prominent abdomen and buttocks, and short hands with fingers usually assuming a “trident" or three-pronged position during extension are characteristic. The trident position is described by an index and middle finger typically close together and the ring finger and the pinkie close together, giving the hand a three-pronged (trident) appearance. The hands are generally short and broad. Infants typically have an arched or vaulted skull in response to the megaloencephaly, which is pathognomonic of the syndrome. The forehead is broad. Midface hypoplasia can be seen. The presence of dorsal kyphosis adds to the dwarfism appearance. Hydrocephalus may be present, so the risk of elevated intracranial pressure should be remembered. Compression of the brainstem because of foramen magnum stenosis may occur in some children and result in a life-threatening condition. The respiratory system may be associated with upper airway obstruction because of midface hypoplasia and short neck. Other features include hearing loss secondary to chronic recurrent otitis media. The incidence of obstructive sleep apnea has been reported because of the macroglossia, high arched palate, prominent mandible, and choanal stenosis. Tonsilloadenoidectomy may improve the symptoms. The cardiovascular system is not involved in this disease. However, as a result of airway obstruction, secondary pulmonary artery hypertension and right ventricular hypertrophy may develop. Obesity may develop in both genders. The mean male adult height is 131 cm and the mean female height is 124 cm. Children may have deformities of the rib cage, including excessive curvature or “cupping” of the ribs. Intellectually, achondroplasia does not cause any impairment or deficiencies in mental abilities. The life expectancy of infants older than 12 months is normal.

The presence of normal intelligence and proper social skills for their age should be considered in the management of the children, adolescents, and adults with the disorder. The most important anesthetic consideration should be ...

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