PROMOTING ACCESS TO AFRICAN RESEARCH

Egyptian Journal of Medical Human Genetics

The AJOL site is currently undergoing a major upgrade, and there will temporarily be some restrictions to the available functionality.
-- Users will not be able to register or log in during this period.
-- Full text (PDF) downloads of Open Access journal articles will be available as always.
-- Full text (PDF) downloads of subscription based journal articles will NOT be available
We apologise for any inconvenience caused. Please check back soon, as we will revert to usual policy as soon as possible.





Case Report - Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome) in an Egyptian child with premature loss of teeth, and café au lait skin patches

RM Shawky, HS Abd-Elkhalek, S Gad, NS Seifeldin

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.

Keywords: The neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome; Premature aging; Milk teeth; Nail dystrophy; Café au lait skin patches




AJOL African Journals Online