Abstract
We describe a brother and sister with microcephaly, hypertelorism, short stature, submucous cleft palate, learning problems, and Hirschsprung aganglionic megacolon (HAM). Literature review failed to show any previous cases combining the above features.
MeSH terms
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Adolescent
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Child
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Cleft Palate / complications*
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Dermatoglyphics
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Face / abnormalities
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Facial Bones / abnormalities
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Female
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Genes, Recessive
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Humans
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Hypertelorism / complications
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Male
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Megacolon / complications*
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Microcephaly / complications
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Syndrome