Lujan-Fryns Syndrome – familial recurrence in the same generation [Abstract in English]

Aims: To report cases of Lujan-Fryns syndrome in two siblings. Description of cases: Patient 1 – male, 16 years, presented high stature, hiperextensibility of joints, prominent forehead, long face and narrow, maxillary hypoplasia, small jaw, large nose with high and narrow nasal bridge and short and deep filter, thin upper lip and arched palate, hypernasal voice and generalized hypotonia. Lability, learning disabilities, timidity and social phobia. Mitral valve prolapse with slight reflux and dilatation of the aortic root. Myopia without retinopathy. Karyotype in peripheral blood with G-band, molecular analysis for fragile X and biochemical investigation for homocystinuria had normal results. Patient 2 – female, 19 years, presented clinical symptoms similar to the patient 1 (her brother), although milder. Complementary tests showed no significant changes. Conclusions: These patients present marfanoid aspect and mental retardation consistent with X-linked inheritance. Although no research has been carried out on mutation in the gene MED 12, the clinical diagnosis of Lujan-Fryns syndrome is supported by the literature. There is no specific treatment, and the patients require special education and psychological counseling.