Search PubMed⌕ Search

Biomedical subjects

A Selicorni

Publications and source records attributed to A Selicorni.

33 records · Page 2Linked to original sources
PubMed1996

The Williams syndrome: an Italian collaborative study.

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.

Abnormalities, Multiple↗
PubMed1995

Kaufman oculocerebrofacial syndrome in a girl of 15 years.

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.

Abnormalities, Multiple↗
PubMed1995

FISH analysis in Prader-Willi and Angelman syndrome patients.

We report on a combined high resolution cytogenetic and fluorescent in situ hybridization study (FISH) on 15 Prader-Willi syndrome (PWS) and 14 Angelman syndrome (AS) patients. High resolution banding showed a microdeletion in the 15q11-q13 region in 7 out of 15 PWS patients, and FISH analysis of the D15S11 and SNRPN cosmids demonstrated absence of the critical region in three additional cases. Likewise 8 out of 14 AS patients were found to be deleted with FISH, using the GABRB3 specific cosmid, whereas only 4 of them had a cytogenetically detectable deletion.

Angelman Syndrome↗
PubMed1995

Genetic heterogeneity in tubular hypomagnesemia-hypokalemia with hypocalcuria (Gitelman's syndrome).

To better clarify the genetic inheritance of primary tubular hypomagnesemia-hypokalemia with hypocalciuria, or Gitelman's syndrome (GS), we studied eight families (10 patients aged 11 to 22 years; 16 parents; 9 siblings) in which at least one offspring had GS (plasma magnesium < 0.65 mmol/liter; plasma potassium < 3.6 mmol/liter; high magnesium and potassium fractional excretions; molar urinary calcium/creatinine < 0.10). Two families each had two offspring of different sex with GS, who all had tetanic episodes and/or marked weakness during childhood or adolescence, whereas in three other families two mothers and three offspring presented GS and one father and two other offspring had hypomagnesemia and hypocalciuria but normal plasma potassium. The mean plasma magnesium and potassium levels of the patients of the first two families were significantly lower (P < 0.05) than those of the other three families. Intralymphocytic but not intraerythrocytic magnesium and potassium were significantly lower (P < 0.05) in patients compared to controls. We hypothesize that there are two different types of genetic transmission of GS, one autosomal recessive and one autosomal dominant with high phenotype variability. It seems that this genetic heterogeneity is associated with a different clinical expression with frequent tetanic episodes and lower plasma potassium and magnesium levels in the autosomal recessive form.

Adolescent↗
PubMed1995

Seizure and EEG patterns in Angelman's syndrome.

We studied the seizure and polygraphic patterns of 18 patients with Angelman's syndrome. All patients showed movement problems. Eleven patients were also reported to have long-lasting periods of jerky movements. The polygraphic recording showed a myoclonic status epilepticus in nine of them. Seven patients had partial seizures with eye deviation and vomiting, similar to those of childhood occipital epilepsies. These seizures and electroencephalographic patterns suggest that Angelman's syndrome occurs in most of the patients as a nonprogressive, age-dependent myoclonic encephalopathy with a prominent occipital involvement. These findings indicate that, whereas ataxia is a constant symptom in Angelman's syndrome, the occurrence of a transient myoclonic status epilepticus may account for the recurrence of different abnormal movements, namely the jerky ones.

Adolescent↗
PubMed1993

Prenatal testing in a fetus at risk for autosomal dominant polycystic kidney disease and autosomal recessive junctional epidermolysis bullosa with pyloric atresia.

Amniocentesis and fetal skin biopsies were performed at 18 weeks of gestation in a fetus at risk for autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive junctional epidermolysis bullosa (EBJ) with pyloric atresia. A previous son of the couple under investigation had died at 3 months of EBJ. The mother of the propositus has ADPKD. Genetic linkage studies were carried out in 11 relatives (4 with ADPKD), and on fetal DNA obtained from cultured amniocytes, using 8 flanking DNA markers tightly linked to the PKD1 locus on chromosome 16p, and a DNA marker linked to another putative ADPKD locus on chromosome 2p. The linkage results indicated that the fetus had not inherited the ADPKD chromosome from the affected mother, with a diagnostic accuracy of > 99%. Ultrastructural and immunohistochemical analyses of multiple fetal skin biopsies showed no EBJ-associated abnormalities. Thus, combining recent morphological and molecular diagnostic methods, we could show that the fetus was free from both diseases. After 40 weeks of gestation, a normal male infant was delivered.

Adult↗
PubMed1993

Variability of the Brachmann-de Lange syndrome.

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.

Adolescent↗
PubMed1993

Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome.

We report on molecular studies in 7 patients with Wolf-Hirschhorn syndrome (WHC) not showing an obvious chromosome 4p deletion. Analysis of a set of polymorphic probes mapping in the 4p16.3 region showed the absence of paternal haplotypes in 5 cases, and maternal haplotypes in 2. These observations corroborate evidence for preferential paternal origin of the de novo 4p chromosome deletion. The overall results of molecular studies suggest that the preponderance of paternally derived WHC could be due, rather than to imprinting of this region, to an excess of structural rearrangements in the male meiosis, related to differences between the mechanisms of sperm and egg production.

Abnormalities, Multiple↗
PubMed1993

Prenatal diagnosis of anatomical connections in conjoined twins by use of contrast magnetic resonance imaging.

Omphalopagus conjoined twins were diagnosed by ultrasonography in a pregnant woman at 21 weeks' gestation. In order to clarify the anatomical connections, magnetic resonance imaging (MRI) was performed, having achieved fetal paralysis by intravascular injection of 100 mg of pancuronium into each twin. Prior to MRI, 2 ml of a 0.0001 mmol/ml solution of gadolinium DTPA was also injected into the stomach of one twin. The contrast agent opacified the bowel loops of both twins, indicating bowel to bowel anastomosis. Following pregnancy termination, autopsy confirmed the prenatal diagnosis.

Abortion, Therapeutic↗
PubMed1993

Trisomy 10qter confirmed by in situ hybridisation.

We report a boy with multiple congenital anomalies compatible with trisomy for the distal region of the long arm of chromosome 10 and a male karyotype with one 18p+. In situ hybridisation with a cDNA for ornithine aminotransferase (OAT), whose locus maps to 10q26, confirmed the clinical suspicion of distal trisomy 10q. Subterminal localisation of the labelling signals on chromosome 10 and on the der(18) indicated the localisation of the OAT locus in the proximal part of 10q26. Two clusters of labelling signals were also found on the pericentromeric and proximal portion of the X chromosome short arm, thus confirming the presence in this region of two non-adjacent OAT pseudogenes. The phenotypic similarities of this patient to previously reported cases provide further support for the delineation of trisomy 10qter as a specific, clinically recognisable syndrome.

Abnormalities, Multiple↗
PubMed1992

Limb anomalies following chorionic villus sampling: a registry based case-control study.

Using data from the Italian Multicentric Birth Defect Registry a case-control study was performed to verify if chorionic villus sampling (CVS) was associated with transverse limb defects (TLD), with or without features of oro-mandibular-limb hypogenesis complex (OMLHC), in the exposed offspring. The results show that the risk of TLD and OMLHC is increased following CVS, and is particularly high for CVS performed early in pregnancy, i.e., under 70 days of gestational age. These results, together with a review of other epidemiologic studies, biological data and clinical reports, strongly suggest a causative role of CVS as a risk factor for TLD and indicate that at this stage CVS before 70 days of gestational age should be discouraged as an option for prenatal diagnosis and that all patients wishing to undergo CVS should be informed about the possible risk of the procedure.

Abnormalities, Multiple↗
PubMedDate not supplied

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

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.

Abnormalities, Multiple↗
PubMedDate not supplied

Long-term hormone replacement therapy in two patients with Kabuki syndrome and growth hormone deficiency.

The Kabuki syndrome is characterized by mental retardation (mild-to-moderate), skeletal anomalies, typical facial appearance and post-natal growth deficiency. The authors describe two patients with Kabuki syndrome and proven growth hormone deficiency. The first patient has been on GH replacement therapy for 4 years; the second for 11 years. On the basis of a sufficiently long follow-up period the Authors discuss the advisability of replacement therapy with growth hormone in patients with Kabuki syndrome.

Abnormalities, Multiple↗
PubMedDate not supplied

[Syndromes in outpatient experience].

We report our experience as clinical geneticists and pediatricians in the management of patients affected by multiple congenital malformations and genetic syndromes. Our aim is to demonstrate that etiological diagnosis, crucial for successful management and counselling, has to be considered the first step in the care of these patients and their families. Coordination of medical interventions, clinical follow-up and psychosocial support have to be included in every out-patient program in this field. Diagnostic approach has to be carried out through a specific methodology which includes extensive clinical expertise in dealing with children affected by multiple congenital anomalies, protocols for major clinical problems, facilities for specific investigations (cytogenetic laboratory, molecular genetics, ecc.), computerized programs for recognising rare syndromes, network of motivated specialists (neurology, ophthalmology, orthopedics, etc.) and possibility of collegial discussion of undiagnosed patients. Psychosocial support and follow-up have to be achieved through trained professionals. Our 5 years of experience in this field (1420 patients) suggest the need for an organized network of services. This could provide the families of children affected by genetic syndromes with a comprehensive management and support program which is lacking in the present health care system.

Abnormalities, Multiple↗