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Case Reports
, 8 (3), 195-200

Severe Mental Retardation With Marfanoid Habitus in a Young Lebanese Male. A Diagnostic Challenge

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  • PMID: 9327261
Case Reports

Severe Mental Retardation With Marfanoid Habitus in a Young Lebanese Male. A Diagnostic Challenge

A Mégarbané et al. Genet Couns.

Abstract

A severely mentally retarded 20-year-old male adult with a marfanoid habitus reported since birth and dysmorphic features is described. A younger brother presented the same appearance at birth but died at 2 months of age following a cardiopathy. Despite some clinical differences, his features are very close to the Lujan-Fryns syndrome and to two unrelated girls described by de Die-Smulders et al. (1). This case shows the challenge that clinicians could have while investigating patients with mental retardation and marfanoid habitus for diagnosis and genetic counseling.

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