Psychopathology in the Lujan–Fryns syndrome: Report of two patients and review

  title={Psychopathology in the Lujan–Fryns syndrome: Report of two patients and review},
  author={Iv{\'a}n Lerma-Carrillo and Juan D. Molina and Teresa Cuevas-Dur{\'a}n and Carmen Julve-Correcher and Juan Manuel Espejo-Saavedra and Cristina Andrade-Rosa and Francisco Javier L{\'o}pez-Mu{\~n}oz},
  journal={American Journal of Medical Genetics Part A},
We report on two new patients, the propositus and his maternal uncle, with Lujan–Fryns syndrome (LFS). One presented with mild mental retardation and both patient had Marfanoid habitus and similar craniofacial anomalies (they had a long and narrow face, small mandible, high‐arched palate, and hypernasal voice) as previously reported by Lujan et al. in 1984 and Fryns and Buttiens in 1987. One of our patients had agenesis of the corpus callosum as described by Lujan. The second patient had an… 

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

It is concluded that patients with LFS may be those taller than the normal range, and the need to carefully examine the psychological and neuropsychological symptoms of LFS is highlighted.

Neuropsychological evaluation in Lujan–Fryns syndrome: Commentary and clinical report

  • Marc S. Williams
  • Psychology, Medicine
    American journal of medical genetics. Part A
  • 2006
A case of LFS is presented with data from repeated neuropsychologic assessments that illustrate the pattern of function and behavior over time, and an otherwise excellent review by Lerma-Carillo et al. is presented.

A novel syndrome with psychiatric features and review of malformation syndromes with psychiatric disorders

A man with visual and auditory hallucinations and behavioral problems who was the product of an incestuous relationship and had anomalies primarily of his face, hands and feet is reported on, defining an undescribed acro‐auricular malformation syndrome with a psychiatric component.

Characterization of a new X‐linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus

A syndromic form of XLMR segregating within a five‐generation family with seven affected males and a combination of features is unreported and distinct from Lujan–Fryns syndrome, Snyder–Robinson syndrome, and zinc finger DHHC domain‐containing 9‐associated MR.

A Rare Case of Lujan Fryn Syndrome

The Lujan-Fryns syndrome is a X-linked syndrome, affecting predominantly males. The diagnosis is based on the presence of the clinical manifestations. There is no specific treatment for this

The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

It seems that these two X-linked mental retardation syndromes are allelic, with mutations in the MED12 gene.

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

It was impossible to make a diagnosis in 80% of patients, suggesting either that there are more loci with genes yet to be discovered or that MH can also be a relatively non‐specific feature of patients with ID.

Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy

The diversity of genetic disorders associated with ASD is shown to show, and a hierarchical diagnostic strategy with a stepwise evaluation is proposed, helping general practitioners/pediatrician and child psychiatrists to collaborate with geneticists and neuropediatricians, in order to search for genetic disordersassociated with ASD.

Lujan-Fryns Syndrome

Sri Lanka Journal of Child Health , 2012; 41 (4): 201-202 (Keywords: Lujan Fryns syndrome; marfanoid habitus; mental retardation; attention deficit hyperactivity disorder) DOI:

Autism spectrum disorders: The quest for genetic syndromes

This review paper critically examines the prevalence and characteristics of the main genetic syndromes, as well as the possible mechanisms for their association with ASD.



X-linked mental retardation with marfanoid habitus: first report of four Italian patients.

Late diagnosis of this relatively new syndrome in all patients confirms the difficulty of the nosologic definition of mentally retarded individuals on clinical grounds alone, and the Lujan-Fryns syndrome appears to be more common than one would have thought.

Preserved neurobehavioral abilities in Lujan-Fryns syndrome.

It is concluded that Lujan-Fryns syndrome can be associated with partial preservation of neurobehavioral abilities and intact concrete problem-solving skills under structured, interactive conditions.

Lujan-Fryns syndrome in the differential diagnosis of schizophrenia.

Clinical examination revealed signs and symptoms most compatible with the diagnosis of Lujan-Fryns syndrome, an X-linked mental retardation syndrome with marfanoid features, frequently associated with psychotic or other psychiatric symptoms.

A form of X-linked mental retardation with marfanoid habitus.

A kindred has been studied in which mental retardation and marfanoid clinical features are present in several individuals, and it is believed that this family probably represents a new form of X-linkedmental retardation.

X-linked mental retardation with marfanoid habitus.

The present data suggest the existence of a specific type of X-linked mental retardation with marfanoid habitus, as previously reported in four mentally retarded males of a large kindred.

Lujan-Fryns syndrome (X-linked mental retardation with marfanoid habitus): report of three cases and review.

Three further cases of mildly retarded patients with marfanoid habitus and a pattern of minor anomalies are reported on, likely to be affected with the Lujan-Fryns syndrome.

Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan–Fryns syndrome

It may be appropriate to consider screening patients with a phenotype suggestive of Lujan–Fryns syndrome by fluorescence in situ hybridisation (FISH) using a probe for the subtelomeric region of the short arm of chromosome 5.

Aortic root dilation in apparent Lujan-Fryns syndrome.

A patient and his maternal uncle who have a subaortic ventricular septal defect and aortic root dilation that are consistent with the diagnosis of Lujan-Fryns syndrome are presented.

X-linked mental retardation with Marfanoid habitus: a changing phenotype with age?

Follow-up data on these two patients reveal that the clinical diagnosis of this syndrome is extremely difficult, if not impossible before puberty, as the Marfanoid habitus only becomes strikingly evident during adolescence.