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At a glance

Fronto-Metaphyseal Dysplasia of Gorlin is a congenital syndrome characterized by facial asymmetry, mandibular hypoplasia, bradycardia, restrictive lung disease, primary pulmonary hypertension, skeletal abnormalities, and difficult endotracheal intubation. Laryngeal stridor can be observed as a result of laryngomalacia, vocal cord paralysis, and subglottic stenosis. Poorly developed musculature and limited joint mobility must also be taken into consideration.

Synonyms

Gorlin Syndrome I; Gorlin Cohen Syndrome; Gorlin-Cohen Frontometaphyseal Dysplasia; Gorlin-Holt Syndrome.

History

First described in 1969 by Robert James Gorlin, an American pathologist and geneticist.

Incidence

Rare; only 20 to 30 cases are known.

Genetic inheritance

Probable X-linked inheritance, with severe manifestations in males and variable manifestations in females.

Pathophysiology

Unknown.

Diagnosis

Usually asymptomatic at birth and then gradually progressive, particularly contractures. Radiography shows bony changes of dysplasia and osteosclerosis. Metachromatic fibroblasts can be observed on hematologic analysis.

Clinical aspects

Prominent supraorbital ridges, incomplete sinus development, micrognathia with decreased angle, high palate, and delayed eruption of teeth. Defective vision and hearing (conductive and sensorineural) are part of this medical condition. Congenital stridor, subglottic stenosis, laryngomalacia, vocal cord paralysis, tracheal web, recurrent respiratory infection, restrictive lung disease, and pulmonary hypertension secondary to scoliosis are reported. Scoliosis, cervical vertebral abnormalities and limited movement, and winged scapula are present. Flexion contracture of joints (particularly fingers), poorly developed musculature. Cardiac murmurs are common, but often no abnormalities are found. However, an association of bradycardia with mitral valve prolapse has been reported. Prognosis depends on the progression of ankylosis and thoracic restriction (respiratory failure). Genitourinary tract obstructive anomalies and hydrocephaly are not unusual.

Precautions before anesthesia

Assessment of associated abnormalities, particularly the airway. A congenital stridor, if present, may be the presenting complaint for diagnosis under anesthesia, and imaging of the airway may be available for assessment. If scoliosis is present, the patient should be assessed for the degree of restrictive lung disease (spirometry) and the presence of pulmonary hypertension (chest radiographs, MRI, blood gases, ECG, and echocardiography). If cardiac murmur is noted, an ECG and echocardiographic evaluation should be performed to rule out arrhythmia and structural abnormality.

Anesthetic considerations

Abnormality of the airway is usual in these patients, so the potential for a difficult tracheal intubation should always be considered. If stridor is present, suggesting the presence of laryngomalacia and/or laryngeal inlet stenosis, a sedative premedication may not be appropriate and the use of a narcotic premedication certainly contraindicated. Atropine should be considered at induction to reduce the risk of bradycardia and to decrease oral secretions. Induction should be performed after placement of all routine monitoring devices. Inhalational induction in 100% O2 is ...

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