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Marden-Walker syndrome in an adult


Kotzot, Dieter; Schinzel, Albert (1995). Marden-Walker syndrome in an adult. Clinical Dysmorphology, 4(3):260-265.

Abstract

We report on a 23-year-old male with growth retardation, blepharophimosis, congenital contractures, minor anomalies of the face, and severe mental retardation. This patient is the second adult reported with the Marden-Walker syndrome. Blepharophimosis, contractures, growth retardation, and developmental delay persisted whereas minor anomalies of the face were less noticeable as the patient grew older. Behaviour changed from kindness in childhood to restlessness, hyperactivity and aggressiveness in adolescence.

Abstract

We report on a 23-year-old male with growth retardation, blepharophimosis, congenital contractures, minor anomalies of the face, and severe mental retardation. This patient is the second adult reported with the Marden-Walker syndrome. Blepharophimosis, contractures, growth retardation, and developmental delay persisted whereas minor anomalies of the face were less noticeable as the patient grew older. Behaviour changed from kindness in childhood to restlessness, hyperactivity and aggressiveness in adolescence.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Health Sciences > Pediatrics, Perinatology and Child Health
Health Sciences > Anatomy
Health Sciences > Pathology and Forensic Medicine
Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics
Language:English
Date:July 1995
Deposited On:18 Apr 2023 08:19
Last Modified:29 Apr 2024 01:37
Publisher:Lippincott Williams & Wilkins
ISSN:0962-8827
OA Status:Closed
PubMed ID:7551165