Abstract
We describe a male patient with lobar holoprosencephaly, ectrodactyly, and cleft lip/palate, a syndrome which has been seen previously in only six patients. In addition, our patient developed hypernatraemia, which has been described in three patients before.
MeSH terms
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Abnormalities, Multiple / diagnostic imaging*
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Child
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Cleft Lip / complications
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Cleft Lip / pathology*
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Cleft Palate / complications
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Cleft Palate / pathology*
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Fingers / abnormalities*
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Follow-Up Studies
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Foot Deformities, Congenital / complications
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Foot Deformities, Congenital / diagnostic imaging
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Hand Deformities, Congenital / complications
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Hand Deformities, Congenital / diagnostic imaging
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Holoprosencephaly / complications
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Holoprosencephaly / diagnostic imaging*
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Humans
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Hypernatremia / complications
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Infant
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Male
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Radiography