BIOMAT Database Logo BIOMAT Database Logo

Probable Marden-Walker syndrome: evidence for autosomal recessive inheritance. 1975

S A Temtamy, and A S Shoukry, and M Raafat, and S Mihareb

Two first cousins, the offspring of consanguineous marriages, had features suggestive of Marden-Walker syndrome. Phenotypic similarities and differences for Schwartz-Jampel syndrome have been discussed. 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. Peculiar facies is due to blepharophimosis, congenital ptosis, hypoplastic mandible and low-set and malformed ears. Posterior median cleft of the palate as well as cardiac and renal anomalies were noted in the case reported by Marden and Walker. Our Case 2 had dextrocardia. The present report suggests autosomal recessive inheritance of this syndrome.

UI MeSH Term Description Entries
D008297 Male Males
D008607 Intellectual Disability Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28) Disability, Intellectual,Idiocy,Mental Retardation,Retardation, Mental,Deficiency, Mental,Intellectual Development Disorder,Mental Deficiency,Mental Retardation, Psychosocial,Deficiencies, Mental,Development Disorder, Intellectual,Development Disorders, Intellectual,Disabilities, Intellectual,Disorder, Intellectual Development,Disorders, Intellectual Development,Intellectual Development Disorders,Intellectual Disabilities,Mental Deficiencies,Mental Retardations, Psychosocial,Psychosocial Mental Retardation,Psychosocial Mental Retardations,Retardation, Psychosocial Mental,Retardations, Psychosocial Mental
D009135 Muscular Diseases Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE. Muscle Disorders,Myopathies,Myopathic Conditions,Muscle Disorder,Muscular Disease,Myopathic Condition,Myopathy
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D003241 Consanguinity The magnitude of INBREEDING in humans. Inbreeding, Human,Consanguineous Marriage,Consanguinous Mating,Consanguineous Marriages,Consanguinities,Consanguinous Matings,Human Inbreeding,Human Inbreedings,Inbreedings, Human,Marriage, Consanguineous,Marriages, Consanguineous,Mating, Consanguinous,Matings, Consanguinous
D003286 Contracture Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint. Contractures
D005808 Genes, Recessive Genes that influence the PHENOTYPE only in the homozygous state. Conditions, Recessive Genetic,Genetic Conditions, Recessive,Recessive Genetic Conditions,Condition, Recessive Genetic,Gene, Recessive,Genetic Condition, Recessive,Recessive Gene,Recessive Genes,Recessive Genetic Condition
D006130 Growth Disorders Deviations from the average values for a specific age and sex in any or all of the following: height, weight, skeletal proportions, osseous development, or maturation of features. Included here are both acceleration and retardation of growth. Stunted Growth,Stunting,Disorder, Growth,Growth Disorder,Growth, Stunted,Stuntings

Related Publications

S A Temtamy, and A S Shoukry, and M Raafat, and S Mihareb
Additional case of Marden-Walker syndrome: support for the autosomal-recessive inheritance adn refinement of phenotype in a surviving patient.
February 2001, Journal of child neurology,
S A Temtamy, and A S Shoukry, and M Raafat, and S Mihareb
Elsahy-Waters syndrome: Evidence for autosomal recessive inheritance.
November 2010, American journal of medical genetics. Part A,
S A Temtamy, and A S Shoukry, and M Raafat, and S Mihareb
Dandy-Walker malformation with postaxial polydactyly: further evidence for autosomal recessive inheritance.
July 1999, American journal of medical genetics,
S A Temtamy, and A S Shoukry, and M Raafat, and S Mihareb
Adams-Oliver syndrome: further evidence for autosomal recessive inheritance.
July 2001, Clinical dysmorphology,
S A Temtamy, and A S Shoukry, and M Raafat, and S Mihareb
Nesidioblastosis: evidence for autosomal recessive inheritance.
April 1991, Archives of disease in childhood,
S A Temtamy, and A S Shoukry, and M Raafat, and S Mihareb
[Marden-Walker syndrome].
January 2001, Ryoikibetsu shokogun shirizu,
S A Temtamy, and A S Shoukry, and M Raafat, and S Mihareb
[Marden-Walker syndrome].
January 2001, Ryoikibetsu shokogun shirizu,
S A Temtamy, and A S Shoukry, and M Raafat, and S Mihareb
Marden Walker Syndrome.
September 2002, Indian pediatrics,
S A Temtamy, and A S Shoukry, and M Raafat, and S Mihareb
Marden-Walker syndrome.
January 1975, Birth defects original article series,
S A Temtamy, and A S Shoukry, and M Raafat, and S Mihareb
[Marden-Walker syndrome].
January 2000, Ryoikibetsu shokogun shirizu,
Copied contents to your clipboard!