A case of Lujan-Fryns syndrome/ Lujan-Fryns sendromlu bir olgu sunumu

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Authors: Nihal Olgac Dundar, Bumin Nuri Dundar and Ayca Esra Akkaya
Date: Sept. 2010
From: Turkish Pediatrics Archive
Publisher: AVES
Document Type: Case study
Length: 1,382 words
Abstract :

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. Key words: Lujan-Fryns syndrome, marfanoid habitus, X-linked mental retardation Lujan-Fryns sendromu (marfanoid habitus sendromlu X-gecisli zeka geriligi) ozellikle erkek cinsiyeti etkileyen sendromlu zeka geriliginin Xgecisli formudur. Sikligi bilinmemektedir. Hafif-orta zeka geriligi, belirgin yuz dismorfizmi, marfanoid gorunum, uzun silindir sekilli ekstremiteler ve davranis sorunlari sendromun ozellikleridir. Tani klinik bulgularla konur. Burada poliklinigimize uzun boy yakinmasi ile basvuran (boy SSS: 3,45) ve fizik muayenesinde; geri zekali gorunum, goz temasi zayifligi, uzun yuz, kucuk cene, molar hipoplazi, yuksek ve dar damak yapisi, hipernazal konusma, pektus karinatum, pes planus, uzun ekstremiteler ve parmaklar gibi bulgularin saptanmasi ile Lujan-Fryns sendromu tanisi konan 14 yas 2 aylik erkek hasta sunulmustur. Anahtar sozcukler: Lujan-Fryns sendromu, marfanoid gorunum, X-gecisli zeka geriligi

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Source Citation

Source Citation
Dundar, Nihal Olgac, et al. "A case of Lujan-Fryns syndrome/ Lujan-Fryns sendromlu bir olgu sunumu." Turkish Pediatrics Archive, 2010, p. 291+. Accessed 6 Aug. 2020.
  

Gale Document Number: GALE|A237602023