X-linked mental retardation with Marfanoid habitus

✍ Scribed by Fryns, J. P.

• Publisher: John Wiley and Sons
• Year: 1991
• Tongue: English
• Weight: 69 KB
• Volume: 38
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320380212

✦ Synopsis

After the publication of F'ryns and Buttiens [19871 reporting 2 pairs of brothers with X-linked mental retardation and Marfanoid habitus, we had the occasion to diagnose this X-linked condition in 4 other males, 2 brothers and 2 isolated patients.

They were all referred to the Genetic Clinic with the clinical suspicion of Marfan syndrome, at the age of 14, 16,18 and 24 years, respectively. Results of heart ultrasound and ophthalmologic examinations were normal, and all were mild to moderately mentally retarded (respective I& 52, 56, 68, and 72). All 4 presented important problems in school integration due to emotional instability, extreme shyness, and slowness.

Summarizing the findings in the reported patients [Lujan et al., 1984; Fryns and Buttiens, 19871 and the symptoms observed in the present 4 males the major clinical criteria for the diagnosis of this apparently X-linked condition with Marfanoid habitus seem to be the following: