Neonatal progeroid syndrome: Report of a Japanese infant
نویسندگان
چکیده
منابع مشابه
Neonatal 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 کاملWiedemann-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.
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Background Barber-Say syndrome (BSS) is a very rare congenital disorder characterized by macrostomia, cutis laxa, and other features. We report our experience of performing general anesthesia on a Japanese child with BSS. Case presentation A bilateral repair of the corners of the mouth under general anesthesia was planned for an 18-month-old male with macrostomia; the child was 75 cm in heigh...
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: Japanese journal of human genetics
سال: 1987
ISSN: 0021-5074
DOI: 10.1007/bf01876880