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.
Aphalangia with Hemivertebrae; Aphalangia of the Hands and
Feet, Hemivertebrae, and Visceral Malformations.
Only a few cases have been
reported in the literature. Autosomal recessive.
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
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.
Johnson VP, Munson DP: A new syndrome of aphalangia, hemivertebrae, and
urogenital-intestinal dysgenesis. Clin Genet