[Tri-phalangeal thumb and hypoplastic anemia in a family].
The congenital erythroid hypoplastic anemia is a rare disease of the early childhood and is manifested through isolated hypoplasia of the red blood cells. The authors present a case of a mother and her daughter with a classical picture of the congenital erythroid hypoplasia appearing jointly with some anomalies. The mother was found to have triphalangia of both thumbs while the child had hexodactylion, the simian scar and hypogammaglobulinemia; Both mother and child were of small size (below 3 PC). This rare syndrome of joint anomalies and congenital hypoplastic anemia may show different expressivity of particular signs which is evidenced through the presented patients.
D000328:Adult; D000741:Anemia, Aplastic / Q000150:complications / Q000151:congenital / Q000235:genetics*; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D010375:Pedigree; D013933:Thumb / Q000002:abnormalities*
Trifalangealni palac i hipoplazna anemija u jednoj porodici.