Author:

Keywords:

Arthrogryposis, Blepharophimosis, Craniofacial Abnormalities, Female, Genetic Counseling, Humans, Hypokinesia, Infant, Newborn, Male, Mental Retardation, Muscle Hypotonia, Pregnancy, Prenatal Diagnosis, Syndrome, Science & Technology, Life Sciences & Biomedicine, Biotechnology & Applied Microbiology, Genetics & Heredity, Medical Ethics, Medicine, Research & Experimental, Research & Experimental Medicine, blepharophimosis, distal arthrogryposis, fetal a(hypo)kinesia sequence, Marden-Walker syndrome, DISTAL ARTHROGRYPOSIS, SPECTRUM, MANIFESTATIONS, ANOMALIES, PHENOTYPE, Intellectual Disability, 2203 Philosophy, 5001 Applied ethics

Abstract:

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. We report a boy with a phenotype mostly resembling the condition named Marden-Walker syndrome, with many of the criteria proposed for diagnosing this particular phenotype. In addition he had hypoplastic corpus callosum, cerebellar vermis hypoplasia, enlarged cisterna magna and vertebral abnormalities. During pregnancy there were reduced fetal movements. In the present patient the fetal hypokinesia sequence, due to central nervous system malformation, is most compatible with the diagnosis of Marden-Walker syndrome. The etiology is probably heterogeneous, but the possibility of autosomal recessive inheritance should be considered in genetic counseling.