Article
Marden-Walker phenotype: a diagnostic dilemma.
Genetic counseling (Geneva, Switzerland) - 1 Jan 1996
Soekarman D, Volcke P, Legius E, Holvoet M, Fryns J P
Abstract excerpt
Two cases are presented with a phenotype mostly resembling the condition named Marden-Walker syndrome. Main features of this condition are blepharophimosis, micrognatia, congenital joint contractures, mental retardation, growth retardation and decreased muscular mass. Follow-up data of patients w...
Topics
- Abnormalities, Multiple
- Adolescent
- Adult
- Blepharophimosis
- Bone Diseases, Developmental
- Contracture
- Diagnosis, Differential
- Face
- Female
- Follow-Up Studies
- Humans
- Intellectual Disability
- Male
- Micrognathism
- Phenotype
- Syndrome