A case of Lujan-Fryns syndromes

作者：Dundar Nihal Olgac^*; Dundar Bumin Nuri; Akkaya Ayca Esra

来源：Turkish Archives of Pediatrics, 2010, 45(3): 291-294.

DOI：10.4274/tpa.45.291

• Lujan-Fryns syndrome
• marfanoid habitus
• X-linked mental retardation

The Lujan-Fryns syndrome (X-linked mental retardation with marfanoid habitus syndrome) is an X-linked form of syndromal mental retardation affecting predominantly males. The prevalence is not known. The syndrome is associated with mild to moderate mental retardation, distinct facial dysmorphism, marfanoid stature, long slender extremities, and behavioural problems. The diagnosis is based on the presence of the clinical manifestations. Here, we presented a 14 years and 2 months boy old boy who applied our outpatient clinic with the complaint of high stature (height SDS:3.45) and diagnosed as Lujan-Fryns syndrome with the detection of physical findings such as mental retarded appearence, poor eye contact, long face, small chin, molar hypoplasia, high and narrow palate, hypernasal speech, pectus carinatum, pes planus and long extremities and fingers. (Turk Arch Ped 2010; 45: 291-4)

• 出版日期2010-9