Article ID Journal Published Year Pages File Type
2178257 Egyptian Journal of Medical Human Genetics 2012 5 Pages PDF
Abstract
A female, 26 months old with features supporting the diagnosis of neonatal progeroid syndrome was presented. She had prenatal and postnatal growth failure, generalized lipoatrophy except for fat pads in the suprabuttock areas, triangular face, pseudohydrocephalous, sparse scalp hair and eyebrows, prominent scalp veins, greatly widened anterior fontanels, and moderate mental retardation. The patient had also some features not reported previously as premature loss of milk teeth, large mouth, atrophic gums, protruded lower jaw, and café aulait skin patches on lower limbs. Nail dystrophy was also detected. She had local depression of the left parietal bone on CT brain, white matter demyelination in MRI brain, and high level of cholesterol.
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