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Case Reports
. 1986 Sep;25(1):1-8.
doi: 10.1002/ajmg.1320250102.

An apparently new syndrome of microcephalic primordial dwarfism and cataracts

H V Toriello, W A Horton, A Oostendorp, D F Waterman, J V Higgins
Case Reports

An apparently new syndrome of microcephalic primordial dwarfism and cataracts

H V Toriello et al. Am J Med Genet. 1986 Sep.

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.

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