Aase-Smith syndrome type II
Saudi Medical Journal. 2004; 25 (12): 2004-6
in English
| IMEMR
| ID: emr-68570
ABSTRACT
Aase-Smith syndrome type II is rare in childhood and there are few reported cases. Here, we report an 8-month-old boy with congenital red cell aplasia and triphalangeal thumbs. In addition to thumb anomalies, he presented with growth failure, hypertelorism and novel osseous radiologic abnormalities, large fontanelles and micrognathia as extraordinary. Some clinical symptoms had complete clinical remission with deflazacort treatment
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Index:
IMEMR (Eastern Mediterranean)
Main subject:
Syndrome
/
Thumb
/
Hand Deformities, Congenital
/
Chromosome Aberrations
/
Red-Cell Aplasia, Pure
Limits:
Humans
/
Male
Language:
English
Journal:
Saudi Med. J.
Year:
2004
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