Marfanoid features and X-linked mental retardation associated with craniofacial abnormalities: the Lujan-Fryns syndrome

Dieckmann, Paula Macedo; Lucena, Lara Carneiro De; Dutra, Lívia Almeida; Pedroso, José Luiz; Barsottini, Orlando Graziani Póvoas

doi:10.1590/s0004-282x2013000100017

Cited by 2 publications

(3 citation statements)

References 4 publications

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“…The clinical diagnostic criteria provided by Fryns are a tall height, Marfanoid features, long hands with highly flexible fingers, a nasal twang, muscle relaxation, mild to moderate mental retardation, behavioral disorders, and obvious facial deformity (1,7). The craniofacial features of LFS patients include macrocephaly, a prominent forehead, a long and narrow face, maxillary hypoplasia, a high arched and narrow palate with uneven teeth, a weak chin, a long nose with a high and narrow nasal bridge, a short and deep philtrum, a thin upper lip, and low-set ears (8). In some cases, brain imaging showed agenesis of the corpus callosum (8).…”

Section: Discussionmentioning

confidence: 99%

“…The craniofacial features of LFS patients include macrocephaly, a prominent forehead, a long and narrow face, maxillary hypoplasia, a high arched and narrow palate with uneven teeth, a weak chin, a long nose with a high and narrow nasal bridge, a short and deep philtrum, a thin upper lip, and low-set ears (8). In some cases, brain imaging showed agenesis of the corpus callosum (8). We found that a diagnosis of ADHD is associated with LFS cases reported in published psychiatric evaluations (1,3).…”

Section: Discussionmentioning

confidence: 99%

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Psychopathology in a Patient with Lujan-Fryns Syndrome: A Case Report

Elyasi

Fariborzifar

Kashi

2019

Zahedan J Res Med Sci

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Introduction: Lujan-Fryns syndrome (LFS) is an X-linked disorder characterized by varying degrees of symptoms, including mental retardation, Marfanoid habitus, facial deformities, hyper nasal speech, and psychopathology and related behavioral abnormalities. The prevalence and full spectrum of LFS's clinical symptoms remain unknown, but the disease is reportedly caused by at least one mutation in the mediator complex subunit 12 (MED12) gene.Case Presentation: This study reports the case of an 18-year-old male with moderate mental disability, a height exceeding the 97th percentile, marfanoid characteristics, obvious craniofacial appearance, and psychiatric and behavioral disorders. Adults with LFS are usually tall, but their heights still fall within the normal range. Conclusions: The higher-than-normal mean height of the young man and psychosis led us to conclude that patients with LFS may be those taller than the normal range. The results provided insights into clinical and therapeutic remedies and highlighted the need to carefully examine the psychological and neuropsychological symptoms of LFS.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Psychopathology in a Patient with Lujan-Fryns Syndrome: A Case Report

Elyasi

Fariborzifar

Kashi

2019

Zahedan J Res Med Sci

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“…2 However, in the presence of family history, a typical combination of a varying degree of intellectual disability, marfanoid body habitus, and hypernasal speech makes the diagnosis of LFS more likely, if the alternative conditions have been excluded. [3][4][5] Moreover, cases of LFS in the absence of any neuropsychiatric issues or positive family history for the disorder have also been reported. 6 We searched the electronic medical database, including PubMed, MEDLINE, Web of Science, and Medscape for literature review (Table 1).…”

Section: Introductionmentioning

confidence: 99%

Lujan–Fryns Syndrome (LFS): A Unique Combination of Hypernasality, Marfanoid Body Habitus, and Neuropsychiatric Issues, Presenting as Acute-Onset Dysphagia

Khan

Humayun

Haider

et al. 2016

Clin Med Insights Case Rep

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BACKGROUNDLujan–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.CASE PRESENTATIONA 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 the MED12 gene on his X-chromosome.CONCLUSIONLFS can present as acute-onset dysphagia and in the absence of any neuropsychiatric issues or positive family history of the syndrome.

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Marfanoid features and X-linked mental retardation associated with craniofacial abnormalities: the Lujan-Fryns syndrome

Cited by 2 publications

References 4 publications

Psychopathology in a Patient with Lujan-Fryns Syndrome: A Case Report

Psychopathology in a Patient with Lujan-Fryns Syndrome: A Case Report

Lujan–Fryns Syndrome (LFS): A Unique Combination of Hypernasality, Marfanoid Body Habitus, and Neuropsychiatric Issues, Presenting as Acute-Onset Dysphagia

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