title: Lujan-Fryns Syndrome (LFS): A Unique Combination of Hypernasality, Marfanoid Body Habitus, and Neuropsychiatric Issues, Presenting as Acute-Onset Dysphagia.
abstract: BACKGROUND
  Lujan-Fryns syndrome (LFS) is an extremely rare, X-linked disorder, for which the full clinical spectrum is still unknown. Usually, it presents with neuropsychiatric problems such as learning disabilities and behavioral issues in a typical combination with marfanoid features. Often, there is a positive family history for the disorder. However, sporadic cases have also been reported in males. More interestingly, there is no case of LFS presenting with acute-onset dysphagia in the English language medical literature.
  
  
  METHODS
  A 17-year-old Pakistani mentally normal school boy was admitted for the workup of acute-onset dysphagia, hypernasal speech, and nasal regurgitation of liquids. He had no neuropsychiatric issues, and his family history was unremarkable. An obvious nasal twang, facial dysmorphism, and marfanoid body habitus were found on examination. The genetic tests revealed a pathogenic missense mutation in theMED12gene on his X-chromosome.
  
  
  CONCLUSIONS
  LFS can present as acute-onset dysphagia and in the absence of any neuropsychiatric issues or positive family history of the syndrome.
authors.affiliation: PG Resident, Department of Medicine, Khyber Teaching Hospital (KTH), Peshawar, Pakistan.
authors.forename: Abidullah
authors.initials: A
authors.lastname: Khan
authors.affiliation: Professor of Medicine, Department of Medicine, Khyber Teaching Hospital (KTH), Peshawar, Pakistan.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Humayun
authors.affiliation: Consultant Physician, Department of Medicine, Khyber Teaching Hospital (KTH), Peshawar, Pakistan.
authors.forename: Iqbal
authors.initials: I
authors.lastname: Haider
authors.affiliation: PG Resident, Department of Medicine, Khyber Teaching Hospital (KTH), Peshawar, Pakistan.
authors.forename: Maimoona
authors.initials: M
authors.lastname: Ayub
keywords: Lujan–Fryns syndrome; Marfan syndrome; facial dysmorphism; hypernasality; marfanoid body habitus