Bilateral triphalangeal thumbs, congenital hypoplastic
anemia, joint and skeletal deformities, delayed fontanelle closure, poor
peripheral vascular access, possible ventricular septal defect.
Aase-Smith Variant; Aase Congenital Anemia;
Blackfan-Diamond Anemia Variant.
First described in 1969 in two male siblings by Jon Morton
Aase, an American pediatrician.
Autosomal recessive transmission with normal
chromosomes but also believed to possibly be autosomal dominant. Genetic
basis of the disease is not known.
Decreased erythropoiesis. The anemia is caused by
underdevelopment of the bone marrow.
Based on bilateral triphalangeal thumbs at birth and
anemia that usually presents at age 6 months.
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.
Check hemoglobin and transfuse as
needed. Check for systemic signs of iron overload, specifically hepatic
cirrhosis and cardiac failure.
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.
No specific implications for this
Muis M: Aase syndrome: Case report and review of the literature. Eur J Pediatr
Yetgin S, Balci S, Irken G, et al: Aase-Smith syndrome. Turk J Pediatr