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Bilateral triphalangeal thumbs, congenital hypoplastic anemia, joint and skeletal deformities, delayed fontanelle closure, poor peripheral vascular access, possible ventricular septal defect.

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Aase-Smith Variant; Aase Congenital Anemia; Blackfan-Diamond Anemia Variant.

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First described in 1969 in two male siblings by Jon Morton Aase, an American pediatrician.

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Autosomal recessive transmission with normal chromosomes but also believed to possibly be autosomal dominant. Genetic basis of the disease is not known.

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Decreased erythropoiesis. The anemia is caused by underdevelopment of the bone marrow.

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Based on bilateral triphalangeal thumbs at birth and anemia that usually presents at age 6 months.

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Mild growth deficiency, third percentile. Congenital hypoplastic anemia tends to improve with age. Frequent transfusions are needed, often requiring chelation therapy. Bilateral triphalangeal thumbs. Narrow shoulder, radial hypoplasia, cleft lip/palate, and Dandy-Walker cyst may be present. Late closure of the fontanelles. Patients occasionally receive steroid therapy. Inability to fully extend the joints from birth (congenital contractures). Rarely spontaneous remission.

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Check hemoglobin and transfuse as needed. Check for systemic signs of iron overload, specifically hepatic cirrhosis and cardiac failure.

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The hematocrit should be assessed preoperatively. Maintain oxygen-carrying capacity. Avoid myocardial depressants, especially with preexisting failure. Peripheral vascular access and placement of radial arterial catheter are difficult.

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No specific implications for this condition.

Muis M: Aase syndrome: Case report and review of the literature. Eur J Pediatr 145:153, 1986.  [PubMed: 3732321]
Yetgin S, Balci S, Irken G, et al: Aase-Smith syndrome. Turk J Pediatr 36:239, 1994.  [PubMed: 7974814]

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