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.

Psychomotor retardation



Total: 4

                       


(per page)
PMID (PMCID)
11292226
 FEMALE Infant, Newborn
Additional case of Marden-Walker syndrome: support for the autosomal-recessive inheritance adn refinement of phenotype in a surviving patient.
Orrico A, Galli L, Zappella M, Orsi A, Hayek G.
J Child Neurol. 2001;16(2):150-3.
The combination of such a distinctive craniofacial appearance and psychomotor retardation allows us to recognize a new case of the Marden-Walker syndrome.
10893662
 MIXED_SAMPLE Infant, Newborn
Marden-Walker syndrome: case report, nosologic discussion and aspects of counseling.
Garavelli L, Donadio A, Banchini G, Magnani C, Magnani C, Calzolari E, Fryns JP.
Genet Couns. 2000;11(2):111-8.
The Marden-Walker syndrome is characterized by a mask-like face with blepharophimosis, micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, decreased muscular mass, failure to thrive and psychomotor retardation.
7677143
 FEMALE
Renal anomalies in Marden-Walker syndrome: a clue for prenatal diagnosis.
Ben-Neriah Z, Yagel S, Ariel I.
Am J Med Genet. 1995;57(3):417-9.
Marden-Walker syndrome is an autosomal-recessive disorder characterized by psychomotor retardation, blepharophimosis, joint contractures, arachnodactyly, failure to thrive, and, infrequently, renal anomalies.
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.