Abstract
Pai syndrome is a rare congenital disorder characterized by cutaneous polyps of the face, pericallosal lipoma and median cleft lip. We report on a newborn girl with a variant of Pai syndrome presenting with all typical findings except a median cleft. In addition, fetal sonography and MRI showed the unique intrauterine evolution of a cephalocele into an atretic cephalocele.
MeSH terms
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Agenesis of Corpus Callosum / diagnosis*
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Agenesis of Corpus Callosum / diagnostic imaging
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Agenesis of Corpus Callosum / surgery
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Cleft Lip / diagnosis*
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Cleft Lip / diagnostic imaging
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Cleft Lip / surgery
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Coloboma / diagnosis*
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Coloboma / diagnostic imaging
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Coloboma / surgery
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Female
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Humans
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Infant, Newborn
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Lipoma / diagnosis*
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Lipoma / diagnostic imaging
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Lipoma / surgery
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Magnetic Resonance Imaging
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Nasal Polyps / diagnosis*
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Nasal Polyps / diagnostic imaging
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Nasal Polyps / surgery
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Pregnancy
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Skin Diseases / diagnosis*
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Skin Diseases / diagnostic imaging
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Skin Diseases / surgery
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Ultrasonography, Prenatal
Supplementary concepts
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Median cleft lip, corpus callosum, lipoma, and skin polyps