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

  title={Neuropsychological evaluation in Lujan–Fryns syndrome: Commentary and clinical report},
  author={Marc S. Williams},
  journal={American Journal of Medical Genetics Part A},
  • Marc S. Williams
  • Published 15 December 2006
  • Psychology, Medicine, Biology
  • American Journal of Medical Genetics Part A
In this issue, an article by Lerma-Carrillo et al. reviews the behavioral phenotype of the Lujan– Fryns syndrome (LFS). The definition of syndromespecific behavioral phenotypes is increasingly recognized as an important tool in the dysmorphologist’s armamentarium. Analogous to the definition of the physical phenotype, which is frequently hampered by inconsistent and incomplete reporting, behavioral phenotypes are largely described using general qualitative impressions. In LFS this is… 

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.

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.

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:

Genes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression

It is clear that the majority of HCA genes are tightly linked with general dysregulation of gene expression, suggesting that disturbances to the chronology of neural maturation and patterning may be key in conferring susceptibility to autism spectrum conditions.

Ascertainment, diagnostic evaluation and gene mapping of South Australian families with possible X-linked mental retardation.

Thesis (M.Clin.Sc.) -- University of Adelaide, School of Paediatrics and Reproductive Health, 2009



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

The high prevalence of psychopathological alterations in these patients suggests the need for psychiatric evaluation at the time of diagnosis, and the agenesis of the corpus callosum and ascending aorta aneurysm are manifestations of LFS.

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.

The Toronto experience in diagnosing alcohol-related neurodevelopmental disorder: a unique profile of deficits and assets.

A novel profile approach was used to examine neuropsychological abilities and disabilities to identify children with ARND who do not meet the diagnostic criteria of FAS, and suggests a model that can be replicated and validated by others.

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.

De Lange syndrome: subjective and objective comparison of the classical and mild phenotypes.

Objective findings substantiate clinical impressions of a phenotypic dichotomy and early in life, the craniofacial features in mild de Lange syndrome may be indistinguishable from the classical phenotype and alternative discriminators must be sought in order to identify those subjects in whom the prognosis is more optimistic.

The neuropsychology of mental retardation.

  • M. Pulsifer
  • Psychology, Medicine
    Journal of the International Neuropsychological Society : JINS
  • 1996
Both knowledge of individual MR-related disorders and comparative research between disorders are important for researchers and clinicians and further research is called for in both areas.

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.

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.

Williams syndrome: a neuropsychological profile.

The results support the view that children with Williams syndrome suffer from a severe impairment in visual-motor integration, and no significant differences were noted between the groups on tests for simple motor skills.