Natural Course of Neonatal Progeroid Syndrome
نویسندگان
چکیده
منابع مشابه
Wiedemann-Rautenstrauch neonatal progeroid syndrome: report of three new patients.
Wiedemann-Rautenstrauch (WR) syndrome is known as a neonatal progeroid syndrome, with only few published case reports. We describe three additional patients, two of them sibs, showing the clinical features of WR syndrome. Skeletal abnormalities are reported and assays of hormones and lipids are presented in one patient. Disturbance in bone maturation and lipid and hormone metabolism appear to b...
متن کاملNeonatal progeroid syndrome (Weidman Rautenstrauch syndrome): A case report from Jammu &Kashmir, India.
A female one month old with features supporting a diagnosis of neonatal progeroid syndrome(WRS) presented to our neonatology section of GB pant children hospital Srinagar .she had prenatal and post natal growth failure, generalized lipotrophy, triangular face, psedohydrocephalous, sparse scalp hair and eye brows, prominent scalp veins and greatly widened anterior fontenella.
متن کاملneonatal progeroid syndrome (weidman rautenstrauch syndrome): a case report from jammu &kashmir, india.
a female one month old with features supporting a diagnosis of neonatal progeroid syndrome(wrs) presented to our neonatology section of gb pant children hospital srinagar .she had prenatal and post natal growth failure, generalized lipotrophy, triangular face, psedohydrocephalous, sparse scalp hair and eye brows, prominent scalp veins and greatly widened anterior fontenella.
متن کاملA maternally transmitted lethal neonatal progeroid syndrome with prominent genitourinary and gastrointestinal features.
Twin brothers and their maternal uncle with a previously undescribed neonatal progeroid syndrome are presented. In addition to progeroid features, they had pseudo-obstruction of the urinary and gastrointestinal tracts, severe leucocytosis, liver dysfunction, and low complex III and IV in muscle but not in liver. Previously described neonatal progeroid syndromes and syndromes featuring pseudo-ob...
متن کاملA Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome
A 3-year-old female patient presenting with an unknown syndrome of a neonatal progeroid appearance, lipodystrophy, pulmonary hypertension, cutis marmorata, feeding disorder and failure to thrive was investigated by whole-genome sequencing. This revealed a de novo, heterozygous, frame-shift mutation in the Caveolin1 gene (CAV1) (p.Phe160X). Mutations in CAV1, encoding the main component of the c...
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ژورنال
عنوان ژورنال: Pediatrics & Neonatology
سال: 2009
ISSN: 1875-9572
DOI: 10.1016/s1875-9572(09)60044-9