Marden-Walker syndrome

Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.

Kyphoscoliosis

An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.


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PMID (PMCID)
23162309
(3491307)
 OTHER
Unusual manifestation of Marden-Walker syndrome.
Taksande AM, Vilhekar KY.
Indian J Hum Genet. 2012;18(2):256-8.
Marden-Walker syndrome (MWS) is characterized by multiple joint contractures, a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, arachnodactyly, and kyphoscoliosis.
8370150
 MALE Infant, Newborn
Marden-Walker syndrome: case report, literature review and nosologic discussion.
Schrander-Stumpel C, de Die-Smulders C, de Krom M, Schyns-Fleuran S, Hamel B, Jaeken D, Fryns JP.
Clin Genet. 1993;43(6):303-8.
The Marden-Walker syndrome is characterized by psychomotor retardation, a mask-like face with blepharophimosis, micrognathia and a high-arched or cleft palate, low-set ears, kyphoscoliosis and joint contractures.
1227520
 MALE
Probable Marden-Walker syndrome: evidence for autosomal recessive inheritance.
Temtamy SA, Shoukry AS, Raafat M, Mihareb S.
Birth Defects Orig Artic Ser. 1975;11(2):104-8.
Main features of the Marden-Walker syndrome are failure to thrive, marked motor and mental retardation, and multiple malformations in the form of peculiar facies associated wilth poor muscle mass, mild congenital joint contractures, pigeon breast, kyphoscoliosis and arachnodactyly.