TY - JOUR
T1 - A Syndrome of Holoprosencephaly, Recurrent Infections, and Monocytosis
AU - Jubinsky, P.T.
AU - Shanske, A.L.
AU - Pixley, Fiona
AU - Montagna, C.
AU - Short, M.K.
PY - 2006
Y1 - 2006
N2 - 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 infections. Laboratory studies showed normal karyotypes, normal lymphocyte function, and a peripheral blood monocytosis with markedly abnormal morphology. Mutation analysis of the seven genes (SHH, ZIC2, SIX3, TGI, FTDGF1, GLI2, and PTCH) known to be involved in holoprosencephaly was normal. This is the first report demonstrating an association between abnormal mononuclear phagocytes and holoprosencephaly. © 2006 Wiley-Liss, Inc
AB - 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 infections. Laboratory studies showed normal karyotypes, normal lymphocyte function, and a peripheral blood monocytosis with markedly abnormal morphology. Mutation analysis of the seven genes (SHH, ZIC2, SIX3, TGI, FTDGF1, GLI2, and PTCH) known to be involved in holoprosencephaly was normal. This is the first report demonstrating an association between abnormal mononuclear phagocytes and holoprosencephaly. © 2006 Wiley-Liss, Inc
U2 - 10.1002/ajmg.a.31542
DO - 10.1002/ajmg.a.31542
M3 - Article
SN - 1552-4825
VL - 140A
SP - 2742
EP - 2748
JO - American Journal of Medical Genetics Part A
JF - American Journal of Medical Genetics Part A
IS - 24
ER -