Marden-Walker syndrome: case report, nosologic discussion and aspects of counseling.

Published on Jan 1, 2000in Genetic Counseling
Livia Garavelli29
Estimated H-index: 29
,
A Donadio2
Estimated H-index: 2
+ 3 AuthorsJean-Pierre Fryns37
Estimated H-index: 37
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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.
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We present an unknown case of an 11-year-old boy with mental retardation, microcephaly, prominent ears, unilateral ptosis, long philtrum, prominent and everted lower lip, abnormally shaped teeth and developmental delay. This is an unknown case with special facial features and mental retardation which can probably be the second case of Mehta-Lewis-Patton syndrome.
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