Article
A syndrome of holoprosencephaly, recurrent infections, and monocytosis.
American journal of medical genetics. Part A - 15 Dec 2006
Jubinsky Paul T, Shanske Alan L, Pixley Fiona J, Montagna Cristina, Short Mary K
Abstract excerpt
We describe three siblings with holoprosencephaly, recurrent infections, and increased peripheral blood monocytes. These children were born to apparently healthy parents in a family with one unaffected child. Affected individuals had microcephaly, severe developmental delay, failure to thrive, and brachydactyly. The clinical courses were complicated by endocrine dysfunction, multiple respiratory, and skin...
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