Oculo-auriculo-vertebral spectrum in Klinefelter syndrome.

We report a boy with classical 47,XXY Klinefelter syndrome (KS) and oculo-auriculo-vertebral spectrum (OAV). Two patients with KS and OAV were reported previously. Also, the combination of bilateral aplasia of the mandibular ramus and condyle and KS has been documented.

Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1.

Five percent of individuals with neurofibromatosis type 1 (NF1) present with congenital long bone pseudarthrosis (PA). In large series, 50-80% of patients with congenital long bone PA also have NF1. Very little information exists on the natural history and pathogenesis of PA in NF1.

Scanning the first part of the neurofibromatosis type 1 gene by RNA-SSCP: identification of three novel mutations and of two new polymorphisms.

Neurofibromatosis type 1 (NF1) of von Recklinghausen is a common autosomal dominant disorder, characterized by peripheral neurofibromas, café-au-lait spots and Lisch nodules of the iris. The high mutation rate at the NF1 locus results in a wide range of molecular abnormalities. We have scanned 14 different exons from the first part of the NF1 gene using the RNA-single strand conformation polymorphism (RNA-SSCP) method in a series of 40 NF1 patients.

Screening of neurofibromatosis type 1 gene: identification of a large deletion and of an intronic variant.

Neurofibromatosis type 1 of von Recklinghausen is a common autosomal dominant disorder, characterized by peripheral neurofibromas, café-au-lait spots and Lisch nodules of the iris. The high mutation rate at the neurofibromatosis type 1 locus results in a wide range of molecular abnormalities. We have screened seven different exons of the neurofibromatosis type 1 gene, including those codifying for the GAP-related domain, using the RNA-Single Strand Conformation Polymorphism (RNA-SSCP) method in a series of 59 neurofibromatosis type 1 patients.

Hypertension in children with neurofibromatosis.

Hypertension in neurofibromatosis is mostly a consequence of a stenosis of the renal artery or is due to phaeochromocytoma. Riccardi pointed out primary hypertension in patients with several cervical neurofibromas in the absence of phaeochromocytoma and he noticed that the elevation of BP was often already present in children. Nine (15.

[The association between hypothyroidism and other congenital defects. The experience of the National Registry in 1987-1992].

This study considers the birth defects (BD) observed from 1987 to 1992 in 35/811 newborns with congenital hypothyroidism (CH) diagnosed by neonatal screening and included in the National Register. The BD incidence was higher than in the general population (4.3 vs 2.

[Neonatal screening in congenital hypothyroidism in Italy. The National Registry].

Neonatal screening for congenital hypothyroidism (CH) began in Italy in 1977 and then progressively developed covering 97% of live births in 1992. The National Register of infants with congenital hypothyroidism was established in 1987 as a project of the Health Ministry and is coordinated by the Italian Institute of Health. The aim of the Register is to provide disease surveillance, to monitor the efficiency and effectiveness of neonatal screening and to allow the identification of possible etiological risk factors in congenital hypothyroidism.

The National Register of infants with congenital hypothyroidism detected by neonatal screening in Italy.

Neonatal screening for congenital hypothyroidism began in Italy in 1977 and then progressively developed covering 94% of live births in 1991. The National Register of infants with congenital hypothyroidism was established in 1987 as a project of the Health Ministry. The results of the Register provided valuable epidemiological information about congenital hypothyroidism in Italy and evidenced some aspects in the screening organization which had to be improved.

[The follow-up of malformation syndromes: the new frontier].

Much progress has been made over the last decade in the field of genetic diseases, mainly because of the advances in molecular biology. However, this has not been paralleled by similar progress in the assistance provided for such patients, owing to the lack of adequate follow-up of such chronic disorders. The author analyses the main objectives of the follow-up.

[National Register of congenital hypothyroidism].

The results of five years activity of the National Register of children with Congenital Hypothyroidism (NRCH) have been evaluated. NRCH was established in Italy in 1987, as a pilot project of Health Ministry. All Italian Centers in charge of the screening, treatment and follow-up of CH are involved in the program.

Three years of experience of the congenital hypothyroidism National Register.

Mental retardation caused by congenital deficiency of thyroid hormones can be prevented by early diagnosis and therapy which are assured by neonatal thyroid screening. Congenital hypothyroidism screening is performed in Italy by regional centres which in 1989 have screened more than 82% of neonatal population. Since 1987 a National Register of children affected by CH has been instituted.

Pulsatile growth hormone release in Turner's syndrome and short normal children.

To determine whether the quantitative and qualitative aspects of GH secretion in girls with Turner's syndrome are similar to those of short-normal children we studied the 24-h GH secretion of 10 patients with Turner's syndrome and 9 short-normal children with comparable auxological features. GH profiles, obtained by 30-min sampling, were analysed by the Pulsar programme. The pulsatile GH release over the 24 h in Turner's syndrome was similar to that in normal children.

Periaqueductal gliosis causing hydrocephalus in a patient with neurofibromatosis type 1.

We present a case of primary nontumoral aqueductal stenosis associated with neurofibromatosis type 1 (NF-1) in an asymptomatic 11-year-old boy. The diagnosis of hydrocephalus followed the finding of bilateral papilledema at an ocular assessment and the diagnosis of NF-1 was made during hospitalization for the papilledema. Periaqueductal gliosis was suspected on cerebral T2-weighted magnetic resonance imaging (MRI).

Blood pressure behaviour and control in Turner syndrome.

Unlabelled: Adult Turner syndrome (TS) patients frequently present hypertension. To clarify the pathogenesis of this hypertension we examined the blood pressure (BP) behaviour and the renin-angiotensin-aldosterone system in 31 TS patients (2-22 years of age). BP levels were occasionally elevated in 47% of the subjects and constantly elevated in 23%.

Juvenile rheumatoid arthritis in Turner's syndrome.

An increased risk for autoimmune diseases has been recognized in Turner's syndrome (T.S.).

[Sex-linked inheritance in fronto-metaphyseal dysplasia].

The author reports a family study of fronto-metaphyseal dysplasia in a 2 months-old child, in his mother and maternal grand-mother. The child is the more severely affected, while the mother and the grand-mother have less severe manifestations of the syndrome. This evidence permits to confirm the X-linked recessive inheritance of the disease, with severe manifestations in males and variable expression in female carriers.

Bilateral retinoblastoma with de novo constitutional balanced translocation t(2;9)(q11;p11).

The case of a 6-year-old boy with bilateral retinoblastoma (RB) and apparently de novo balanced translocation t(2;9)(q11;p11) is presented. The normality of 13q14 chromosome region has been confirmed using high resolution techniques and Esterase D assay. The hypothesis that this RB might be correlated to the translocation is discussed.

"De Novo" trisomy 20p with macroorchidism in a prepuberal boy.

A 9-year-old prepuberal boy with trisomy 20p syndrome and previously undescribed macroorchidism is presented. This is the second report of trisomy 20p originated "de novo" supporting a frequency rate of about the 10% for this etiological mechanism. Reviewing the most common clinical findings of all 19 previous patients, a typical phenotype with a recognizable face can be carried out in several cases.

Tetrasomy 9p confirmed by GALT.

We report a boy aged 12 years 7 months with mental retardation, hydrocephalus, dysmorphic facial features, congenital heart disease, and skeletal and renal anomalies. The karyotype showed a mosaic tetrasomy 9p involving the secondary constriction. This result was confirmed by tetraplex gene dosage effect for galactose-1-P-uridyltransferase (GALT).

Franceschetti syndrome in a child with a de novo balanced translocation (5;13)(q11;p11) and significant decrease of hexosaminidase B.

We report a previously undescribed case of a de novo balanced translocation t(5;13)(q11;p11) and Franceschetti syndrome in a 3-year-old girl. The hypothesis that this unusual association might not be coincidental but rather due to position effect is proposed. Moreover the significant decrease of hexosaminidase B activity suggests the localization of this gene on the 5q11 band.