An apparently new syndrome of microcephalic primordial dwarfism and cataracts
- 1 September 1986
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 25 (1) , 1-8
- https://doi.org/10.1002/ajmg.1320250102
Abstract
We describe two sibs with prenatal‐onset growth deficiency, microcephaly, cataracts, mental retardation, enamel hypoplasia, immune deficiency, and generalized delay of ossification. The combination appears to constitute a previously undescribed autosomal recessive syndrome.Keywords
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