Johnson Munson Syndrome

At a glance

Aphalangia of the hands and feet with hemivertebrae, including pulmonary hypoplasia, congenital heart anomalies (ventricular septal defect), and dysgenesis of the urogenital tract and rectum. Death usually occurs during the first year of life.

Synonyms

Aphalangia with Hemivertebrae; Hands and Feet Aphalangia Syndrome; Hemivertebrae Visceral Malformations Syndromes.

Incidence

Only three cases have been reported in the literature.

Genetic inheritance

Autosomal recessive inheritance trait.

Clinical aspects

Aphalangia of the hands and feet, hemivertebrae, pulmonary hypoplasia, ventricular septal defect, and dysgenesis of urogenital tract and rectum. May die of respiratory insufficiency in early infancy.

Anesthetic considerations

Assess respiratory function (chest radiograph, arterial blood gases) and cardiovascular system (echocardiography). May have hypoplastic lungs requiring intraoperative and postoperative ventilation. Patient may have ventricular septal defects, so endocarditis prophylaxis is required. Left-to-right intracardiac shunting leads to pulmonary hypertension. Abnormalities of the spine may make extradural and intrathecal anesthesia difficult to perform.

Other condition to be considered

• ☞Potter Sequence: Characterized by the presence of oligohydramnios during pregnancy due to bilateral renal agenesis. The infant is born with severe kidney disease, clubbed feet, pulmonary hypoplasia, and severe cranial anomalies. Potter sequence has been defined into five distinct subclassifications. It is estimated to occur at a frequency of approximately 1:4,000 to 1:8,000 fetuses and neonates. This medical condition was described by Edith Potter (1901-1993) in 1946 in a series of 20 cases.

References