ABSTRACT
Williams syndrome (WS) is a multiple congenital anomalies/mental retardation syndrome caused by a microdeletion on the long arm of chromoome 7 including the elastin gene. Possibly it is a contiguous gene syndrome with autosomal dominant transmission. Seventy-seven WS patients from 11 Italian Pediatric-Dysmorphology-Genetics Units were collected by means of a questionnaire designed to draw a comprehensive clinical picture, to define the frequency of different traits and associations thereof, to better understand the clinical evolution, to improve the prognosis and to ameliorate the follow-up. The most important signs for diagnosis, based on their relative frequencies, are: mental retardation with characteristic outgoing behaviour and hoarse voice; facial findings like stellate iris, periorbital fullness and thick lips; congenital heart disease. The frequency of the clinical signs reported in our patients are on the whole concordant with those found in the literature; the only significant differences concern low stature, hallus valgus, hypoplastic nails, joint contractures and ear infections. The multisystemic nature of this syndrome requires a coordinated and integrated approach in order to avoid fragmentary interventions.
Subject(s)
Williams Syndrome/epidemiology , Abnormalities, Multiple/genetics , Adult , Child , Child, Preschool , Facies , Growth Disorders/genetics , Humans , Intellectual Disability/genetics , Italy/epidemiology , Maternal Age , Parents , Paternal Age , Williams Syndrome/diagnosis , Williams Syndrome/geneticsABSTRACT
Kaufman oculocerebrofacial syndrome (KOS) is a rare autosomal recessive disorder characterized by severe mental retardation, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet. To our knowledge only 8 cases have been reported so far, diagnosed at a mean age of 10 years. We report on a girl who was diagnosed at 15 years. Further phenotypic delineation is needed to improve diagnosis of this syndrome early in life.
Subject(s)
Abnormalities, Multiple/genetics , Eye Abnormalities/genetics , Facial Bones/abnormalities , Foot Deformities, Congenital/genetics , Hand Deformities, Congenital/genetics , Adolescent , Child , Eye Abnormalities/diagnosis , Facial Bones/diagnostic imaging , Female , Foot Deformities, Congenital/diagnosis , Genes, Recessive , Hand Deformities, Congenital/diagnosis , Humans , Male , Phenotype , Radiography , SyndromeABSTRACT
Brachmann-de Lange syndrome (BDLS) is a relatively common multiple congenital anomaly/mental retardation syndrome, whose cause is unknown. The clinical variability of this condition is well-known. Recently some reports suggested the possible existence of a mild BDLS phenotype. We report on 30 patients in whom a diagnosis of BDLS was made or strongly suspected in 12 different Italian hospitals. Based on clinical evaluation we divided them into two groups, classical and mild BDLS cases. We compare the clinical data of these patients and we discuss the problems which arise in trying to define clear criteria of distinction between these two groups.
Subject(s)
De Lange Syndrome/classification , Adolescent , Adult , Child , Child, Preschool , De Lange Syndrome/diagnosis , De Lange Syndrome/genetics , Face/abnormalities , Female , Growth Disorders/genetics , Humans , Infant , Infant, Newborn , Intellectual Disability/genetics , Limb Deformities, Congenital , Male , Phenotype , Psychomotor Disorders/geneticsABSTRACT
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.
Subject(s)
Abnormalities, Multiple/genetics , Intellectual Disability/genetics , X Chromosome , Abnormalities, Multiple/pathology , Adolescent , Adult , Diagnosis, Differential , Hallucinations/etiology , Humans , Intellectual Disability/diagnosis , Intellectual Disability/pathology , Limb Deformities, Congenital , Male , Marfan Syndrome/diagnosis , SomatotypesABSTRACT
The expression of HLA class I antigens in testicular germ cell tumors (TGCTs) was studied by the immunoperoxidase technique. In the normal testicle, the interstitial cells of Leydig as well as most of the germ cells were significantly stained. In typical seminoma, 75% of the tumor cells in stage I and 30% in stage II were stained. In embryonal cell carcinoma, 25% of the cases in stage I and less than 10% of those in stage II were stained. Mature teratoma was stained in most of the cases, whereas in malignant teratoma only 35% of the cases showed some staining of the tumor cells. In mixed tumors each component displayed its characteristic staining pattern. The expression of class I antigens on tumor cells is required for immune recognition and lysis of the tumor by cytotoxic T-cells. The reduced expression of class I antigens that was related to histologic characteristics and stage suggests that some testicular tumors may escape immune surveillance and become biologically more aggressive.
