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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.

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Aphalangia with Hemivertebrae; Aphalangia of the Hands and Feet, Hemivertebrae, and Visceral Malformations.

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Only a few cases have been reported in the literature. Autosomal recessive.

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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.

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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 38:346, 1990.  [PubMed: 2282714]

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