X-linked mental retardation with marfanoid habitus: first report of four Italian patients. 1991

F Lalatta, and E Livini, and A Selicorni, and V Briscioli, and A Vita, and F Lugo, and M Zollino, and F Gurrieri, and G Neri
Seconda Clinica Pediatrica, Università di Milano, Italy.

We report on 4 new cases of mildly retarded patients with marfanoid habitus and a characteristic constellation of minor anomalies. These patients, although sporadic, are likely to be affected by the same X-linked type of mental retardation described by Lujan et al. (American Journal of Medical Genetics 17:311-322, 1984) and more recently by Fryns and Buttiens (American Journal of Medical Genetics 28:267-274, 1987). The similar psychiatric history in 2 of our patients suggests that psychotic behaviour could be an additional manifestation, previously unrecognized in this condition. Late diagnosis of this relatively new syndrome in all our patients confirms the difficulty of the nosologic definition of mentally retarded individuals on clinical grounds alone. On the other hand, the Lujan-Fryns syndrome appears to be more common than one would have thought.

UI MeSH Term Description Entries
D008297 Male Males
D008382 Marfan Syndrome An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE; AORTIC ANEURYSM; and AORTIC DISSECTION. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome (type 1) is associated with mutations in the gene encoding FIBRILLIN-1 (FBN1), a major element of extracellular microfibrils of connective tissue. Mutations in the gene encoding TYPE II TGF-BETA RECEPTOR (TGFBR2) are associated with Marfan syndrome type 2. Marfan Like Connective Tissue Disorder,Marfan Syndrome Type 1,Marfan Syndrome Type 2,Marfan Syndrome, Type II,Marfan Syndrome, Type I,Marfan's Syndrome,Marfans Syndrome
D008607 Intellectual Disability Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28) Disability, Intellectual,Idiocy,Mental Retardation,Retardation, Mental,Deficiency, Mental,Intellectual Development Disorder,Mental Deficiency,Mental Retardation, Psychosocial,Deficiencies, Mental,Development Disorder, Intellectual,Development Disorders, Intellectual,Disabilities, Intellectual,Disorder, Intellectual Development,Disorders, Intellectual Development,Intellectual Development Disorders,Intellectual Disabilities,Mental Deficiencies,Mental Retardations, Psychosocial,Psychosocial Mental Retardation,Psychosocial Mental Retardations,Retardation, Psychosocial Mental,Retardations, Psychosocial Mental
D003937 Diagnosis, Differential Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures. Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D006212 Hallucinations Subjectively experienced sensations in the absence of an appropriate stimulus, but which are regarded by the individual as real. They may be of organic origin or associated with MENTAL DISORDERS. Hallucination of Body Sensation,Hallucinations, Auditory,Hallucinations, Dissociative,Hallucinations, Elementary,Hallucinations, Formed, of People,Hallucinations, Gustatory,Hallucinations, Hypnagogic,Hallucinations, Hypnapompic,Hallucinations, Internal Body Sensation,Hallucinations, Kinesthetic,Hallucinations, Mood Congruent,Hallucinations, Mood Incongruent,Hallucinations, Olfactory,Hallucinations, Organic,Hallucinations, Reflex,Hallucinations, Sensory,Hallucinations, Somatic,Hallucinations, Tactile,Hallucinations, Verbal Auditory,Hallucinations, Visual,Hallucinations, Visual, Formed,Hallucinations, Visual, Unformed,Auditory Hallucination,Auditory Hallucination, Verbal,Auditory Hallucinations,Auditory Hallucinations, Verbal,Body Sensation Hallucination,Body Sensation Hallucinations,Dissociative Hallucination,Dissociative Hallucinations,Elementary Hallucination,Elementary Hallucinations,Gustatory Hallucination,Gustatory Hallucinations,Hallucination,Hallucination, Auditory,Hallucination, Dissociative,Hallucination, Elementary,Hallucination, Gustatory,Hallucination, Hypnagogic,Hallucination, Hypnapompic,Hallucination, Kinesthetic,Hallucination, Mood Congruent,Hallucination, Mood Incongruent,Hallucination, Olfactory,Hallucination, Organic,Hallucination, Reflex,Hallucination, Sensory,Hallucination, Somatic,Hallucination, Tactile,Hallucination, Verbal Auditory,Hallucination, Visual,Hypnagogic Hallucination,Hypnagogic Hallucinations,Hypnapompic Hallucination,Hypnapompic Hallucinations,Kinesthetic Hallucination,Kinesthetic Hallucinations,Mood Congruent Hallucination,Mood Congruent Hallucinations,Mood Incongruent Hallucination,Mood Incongruent Hallucinations,Olfactory Hallucination,Olfactory Hallucinations,Organic Hallucination,Organic Hallucinations,Reflex Hallucination,Reflex Hallucinations,Sensory Hallucination,Sensory Hallucinations,Somatic Hallucination,Somatic Hallucinations,Tactile Hallucination,Tactile Hallucinations,Verbal Auditory Hallucination,Verbal Auditory Hallucinations,Visual Hallucination,Visual Hallucinations
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000015 Abnormalities, Multiple Congenital abnormalities that affect more than one organ or body structure. Multiple Abnormalities
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D013008 Somatotypes Body builds determined on the basis of certain physical characteristics of body shape and BODY COMPOSITION. A somatotyping appraisal is a composite rating of the three basic body types: ectomorph (thin physique), endomorph (rounded physique), and mesomorph (athletic physique). Body Build,Body Shape,Body Type,Body Types,Ectomorph,Endomorph,Mesomorph,Body Builds,Body Shapes,Ectomorphs,Endomorphs,Mesomorphs,Somatotype

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