Severe mental retardation with marfanoid habitus in a young Lebanese male. A diagnostic challenge.
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.
Mégarbané
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A
Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beyrouth, Liban.
Chammas
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C
D000328:Adult; D000886:Anthropometry; D006801:Humans; D008607:Intellectual Disability; D007861:Lebanon; D008297:Male; D008382:Marfan Syndrome; D011859:Radiography; D012720:Severity of Illness Index; D012886:Skull / Q000000981:diagnostic imaging