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

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• 作者：Rabah M. Shawky^a ; ^{shawkyrabah@yahoo.com} ; Heba Salah Abd-Elkhalek^a ; Shimaa Gad^a ; Neveen S. Seifeldin^b
• 关键词：The neonatal progeroid syndrome ; Wiedemann-Rautenstrauch syndrome ; Premature aging ; Milk teeth ; Nail dystrophy ; Café ; au lait skin patches
• 刊名：Egyptian Journal of Medical Human Genetics
• 出版年：2012
• 期刊代码：pca123_11108630
• 类别：med
• 出版时间：June, 2012
• 卷：13
• 期：2
• 页码：227-231
• 文件大小：874 K

摘要

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 caf茅 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.