Neonatal progeroid syndrome (wiedemann-rautenstrauch syndrome) in an Egyptian child with premature loss of teeth, and cafe au lait skin patches
Joint Authors
Shawqi, Rabah M.
Sayf al-Din, Nifin S.
Abd al-Khaliq, Hibah Salah
Jad, Shimaa
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 13, Issue 2 (31 Aug. 2012), pp.227-231, 5 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2012-08-31
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Topics
Abstract EN
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, pseudo hydrocephalous, 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 cafe´ 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.
American Psychological Association (APA)
Shawqi, Rabah M.& Abd al-Khaliq, Hibah Salah& Jad, Shimaa& Sayf al-Din, Nifin S.. 2012. Neonatal progeroid syndrome (wiedemann-rautenstrauch syndrome) in an Egyptian child with premature loss of teeth, and cafe au lait skin patches. The Egyptian Journal of Medical Human Genetics،Vol. 13, no. 2, pp.227-231.
https://search.emarefa.net/detail/BIM-312988
Modern Language Association (MLA)
Shawqi, Rabah M.…[et al.]. Neonatal progeroid syndrome (wiedemann-rautenstrauch syndrome) in an Egyptian child with premature loss of teeth, and cafe au lait skin patches. The Egyptian Journal of Medical Human Genetics Vol. 13, no. 2 (2012), pp.227-231.
https://search.emarefa.net/detail/BIM-312988
American Medical Association (AMA)
Shawqi, Rabah M.& Abd al-Khaliq, Hibah Salah& Jad, Shimaa& Sayf al-Din, Nifin S.. Neonatal progeroid syndrome (wiedemann-rautenstrauch syndrome) in an Egyptian child with premature loss of teeth, and cafe au lait skin patches. The Egyptian Journal of Medical Human Genetics. 2012. Vol. 13, no. 2, pp.227-231.
https://search.emarefa.net/detail/BIM-312988
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 230-231
Record ID
BIM-312988