Walker-Warburg syndrome.
نویسندگان
چکیده
The Walker-Warburg syndrome (WWS) is a rare autosomal recessive disorder characterized by lissencephaly, cerebellar and retinal malformations, and congenital muscular dystrophy. We report a new case of WWS identified with the aid of cranial MR and briefly review the radiologic findings of this lethal syndrome.
منابع مشابه
Perioperative considerations in Walker–Warburg syndrome
Walker-Warburg syndrome is a rare congenital disorder. Several features, including muscular dystrophy, hydrocephalus, and oropharyngeal abnormalities, have important implications in the perioperative setting. We present a case of general anesthesia in an infant and discuss perioperative considerations to guide clinicians faced with the management of patients with this syndrome.
متن کاملAnesthesia for a child with Walker-Warburg syndrome.
BACKGROUND AND OBJECTIVES Walker-Warburg Syndrome is a rare, autosomal recessive congenital muscular dystrophy manifested by central nervous system, eye malformations and possible multisystem involvement. The diagnosis is established by the presence of four criteria: congenital muscular dystrophy, type II lissencephaly, cerebellar malformation, and retinal malformation. Most of the syndromic ch...
متن کاملPrenatal Diagnosis of Walker–Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus
Background Congenital hydrocephalus is a common and often disabling disorder. Various syndromic forms of hydrocephalus have been reported in the Palestinian population including Walker-Warburg syndrome (WWS), Carpenter syndrome, and Meckel syndrome. Aim In this report we discuss the antenatal diagnosis of congenital hydrocephalus in three related Palestinian families. Method Single nucleotide p...
متن کاملVery Early In-Utero Diagnosis of Walker-Warburg Phenotype: The Cutting Edge of Technology.
BACKGROUND Walker-Warburg phenotype is a severe and lethal autosomal recessive disorder, belonging to a group of congenital malformations defined as abnormal pial basement membrane formation. So far, prenatal diagnosis was considered possible only during late pregnancy. METHODS First trimester assessment of a pregnancy suspected to be affected by Walker-Warburg phenotype, using a high-resolut...
متن کاملWalker-Warburg syndrome. Report of two cases.
The purpose of this study is to describe two infants that were diagnosed with Walker-Warburg syndrome (WWS), a rare form of congenital muscular dystrophy (CMD). They were studied in their clinical, laboratory, and neuroradiologic features. The index case had a brain magnetic resonance imaging (MRI) and the second patient had a head computerized tomography (CT). In addition, a literature review ...
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ورودعنوان ژورنال:
- AJNR. American journal of neuroradiology
دوره 13 1 شماره
صفحات -
تاریخ انتشار 1992