Aase-Smith syndrome

A very rare genetic disorder characterised by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.

Anemia

A reduction in erythrocytes volume or hemoglobin concentration.


合計: 1

                       


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PMID (PMCID)
7974814
 FEMALE Infant
Aase-Smith syndrome: report of a new case with unusual features.
Yetgin S, Balci S, Irken G, Coskun T, Say B.
Turk J Pediatr. 1994;36(3):239-42.
The findings in this case suggest that it is very difficult to differentiate Aase-Smith syndrome from Blackfan-Diamond and Fanconi's anemias as well as from those cases reported by Murphy and Lubin, and Jones and Thompson.