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Biomedical subjects

G Corsello

Publications and source records attributed to G Corsello.

At least 37 records · Page 2Linked to original sources
PubMed1992

VATER/VACTERL association: clinical variability and expanding phenotype including laryngeal stenosis.

Vertebral abnormalities and anorectal and tracheoesophageal defects are the main manifestations in the VATER/VACTERL association. Radial defects vary from radial aplasia to thumb duplication. Heart and renal defects are reported with lower frequency. Additional malformations, such as the laryngeal stenosis described in the present patient, may expand the phenotype of the association. The wide spectrum of congenital abnormalities confirms the high clinical variability of VATER/VACTERL association which seems to be due to a disruption of blastogenesis.

Esophageal Atresia↗
PubMed1992

Thanatophoric dysplasia in monozygotic twins discordant for cloverleaf skull: prenatal diagnosis, clinical and pathological findings.

We present male monozygotic twins with thanatophoric dysplasia (TD) type I concordant for long bone abnormalities and discordant for cloverleaf skull. The twins were the product of the second pregnancy of unrelated parents, with advanced paternal age. Prenatal diagnosis and postmortem examination showed severe rhizomelic shortness of limbs, bowing of the long bones with "telephone-receiver" femora in both twins, and cloverleaf skull and hydrocephalus in one of them. It is now accepted that most of cases of TD, such as in the present report, represent an autosomal dominant mutation with a high new mutations rate.

Adult↗
PubMed1991

Kabuki make-up (Niikawa-Kuroki) syndrome: clinical and radiological observations in two Sicilian children.

The Authors describe two patients aged 5 and 8, a female and a male, affected by a condition of polymalformations known as Kabuki make-up or Niikawa-Kuroki syndrome, having a neonatal incidence of 1:32,000 in Japan. There are two hypothesis about the apparent rarity of the syndrome in the rest of the world, including the Asian Continent: the first is that it exists, but is infrequently recognized outside Japan and the second is that it is really more frequent in those parts of the world, where ethnic exchanges are uncommon, as it happens in Japan.

Abnormalities, Multiple↗
PubMed1991

Pubertal maturation in girls treated for childhood acute leukaemia.

Eleven girls treated during childhood for acute leukaemia were followed up during their pubertal development. At each examination weight, height, pubertal stage, FSH, LH, oestradiol, testosterone, androstenedione and dehydroepiandrosterone sulphate levels were evaluated. Clinical and endocrinological studies were performed according to age and pubertal stage and compared to those of healthy girls matched for age and pubertal stage. Results showed that pubertal maturation and gonadal function were not affected by oncotherapy; however menarche was attained earlier. Early menarche was explained by the overweight of treated girls during early puberty. No evidence of early hypothalamic activation was found, but endocrine patterns showed a faster hypothalamopituitary-ovarian axis maturation in patients than controls. Cranial irradiation showed no correlation with pubertal onset and age at which menarche was attained. Adolescent menstrual and endocrine patterns were normal.

Age Factors↗
PubMed1991

[Role of diagnostic imaging in Rubinstein-Taybi syndrome. Personal experience with 8 cases].

Both etiology and pathogenesis of Rubinstein-Taybi syndrome (RTS) are still questionable, even though a genetic factor seems to be certain. A typical face, psychomotor delay, and thumb and halluces abnormalities (big, prevalently short, and often "spoon-like" toes) are the main characteristic patterns of RTS. Eight subjects (4 male and 3 female children aged 26 days-7 years, and a 31-year-old woman, mother of 1 of the affected children) with different signs of RTS were studied over the last 3 years. The results are here reported, with a special emphasis on malformations detected with conventional radiography (Rx), Computerized Tomography (CT), and ultrasound (US). Evaluated parameters were thumbs and halluces (Rx), bone age and skeleton (Rx), cranium (Rx) and encephalon (US, CT), cryptorchidism (US, CT), and urological (Rx, US) and cardiovascular (US) systems. A typical face and psychomotor delay were found in all cases, while thumb and halluces abnormalities were observed only in 6 cases. Among several clinical signs of RTS, we found: severe (less than 3rd centile) bone maturation delay in 4 cases; skull volume reduction (less than 50th centile) in 3 subjects and microcrania in 4; skeletal abnormalities in 7 cases (5 of them positive for bilateral coxofemoral abnormalities); urinary tract (4 cases) and cardiovascular (3 cases) malformations; and cryptorchidism in 3 of 4 males. A case was diagnosed during neonatal period (within the first month of life); it was a rare case associated with a variant form of Dandy-Walker anomaly; semiologic similarities were observed between mother and daughter patients. X-rays, US and CT rarely play an important role in the diagnosis of RTS, considering the several clinical signs, mainly the face, affecting the patients. However, diagnostic imaging techniques help diagnose hidden malformations and confirm and integrate clinical signs.

Adult↗
PubMed1990

Holoprosencephaly: examples of clinical variability and etiologic heterogeneity.

Clinical variability and causal heterogeneity of holoprosencephaly is discussed in relation to several newborn infants with cyclopia (cases 4,5,6), cebocephaly (cases 2,3), and premaxillary agenesis (case 1). In subjects with holoprosencephaly, the presence of multiple malformations is an indicator of concomitant chromosome aberrations, as in present case 1 (Down syndrome) and case 3 (trisomy 13). Cases 5 and 6 are two monozygotic twins with the same type of cyclopia and alobar holoprosencephaly recognized by prenatal ultrasonography. The diagnostic importance of ultrasonographic, cytogenetic, and pathological studies is pointed out in view of etiologic evaluation, genetic counseling, and prevention of holoprosencephaly.

Abnormalities, Multiple↗
PubMed1990

Growth charts of Down syndrome in Sicily: evaluation of 382 children 0-14 years of age.

We present the results of a study performed on a Sicilian population of children with Down syndrome (DS) 0-14 years of age, observed between 1977 and 1988. Data from the present report concern 382 subjects with nonmosaic 21 trisomy, including 239 males (62.6%) and 143 females (37.4%). We excluded all DS children observed in the same period with associated pathology (congenital heart defects, gastrointestinal malformations, malabsorption, hypothyroidism, and thalassemia). Overall, 1,464 measurements were performed of length or height, weight, and head circumference. Means and standard deviation (SD) were calculated for all of these parameters. Our data confirm a trend toward a progressive improvement of growth in children with DS, as shown in other recent reports. The purpose of this study was also to create a "normal growth pattern" useful to evaluate DS children and also to diagnose early pathologic conditions affecting growth, such as autoimmune diseases.

Adolescent↗
PubMedDate not supplied

Spondylo-costal dysostosis in two siblings.

Two new cases of Spondylo-Costal Dysostosis (SCD) are reported in two siblings with strikingly similar skeletal abnormalities. Parental consanguinity documents in this family an autosomal recessive inheritance of trait. Clinical variability of SCD is discussed on the basis of clinical and radiological features. Its genetic heterogeneity is pointed out even considering the occurrence of cases with autosomal dominant as well as recessive inheritance.

Abnormalities, Multiple↗
PubMedDate not supplied

Cervico-oculo-acusticus (Wildervanck's) syndrome: a clinical variant of Klippel-Feil sequence?

A 7-year-old female child with phenotype of Cervico-Oculo-Acousticus (Wildervanck's) syndrome is presented. In addition to fusion of multiple cervical vertebrae with short neck, abducens nerve palsy and deafness, the child showed severe growth and bone delay, renal abnormalities and slight mental retardation. The presence of such malformations seems to suggest that Wildervanck's syndrome is a clinical variant of Klippel-Feil sequence. Both conditions usually have sporadic occurrence with female prevalence, more consistent for cervico-oculo-acousticus syndrome. The possibility of dominant inheritance has been postulated for both, autosomal for Klippel-Feil, autosomal or X-linked with lethality in hemizygous for Wildervank's one. An environmental etiology, due to a vascular disruption sequence during embryonic development, has been noted in Klippel-Feil, as in Moebius and Poland sequences. A combination of defects (Klippel-Feil and Moebius) could induce the more complex phenotype observed in Wildervanck's syndrome.

Abnormalities, Multiple↗
PubMedDate not supplied

Two new cases of thrombocytopenia absent radius (TAR) syndrome: clinical, genetic and nosologic features.

Two unrelated children affected by TAR syndrome, autosomic recessive disease with congenital thrombocytopenia and bilateral radial aplasia, are described. In the first case a mild thrombocytopenia has been compatible with a fairly normal life until the second year of age. The other child shows radial aplasia associated with other anomalies of the upper limbs, severe thrombocytopenia and leukemoid reaction. The relationship among TAR syndrome, Fanconi's anemia and Roberts' syndrome are briefly discussed.

Abnormalities, Multiple↗
PubMedDate not supplied

[The follow-up of malformation uropathies diagnosed "in utero"].

Prenatal diagnosis and postnatal follow-up of urinary tract congenital malformations are discussed. Among 9501 overall births, 25 newborns with urinary tract congenital malformations were born (2.6 x 1,000). Twenty cases had been diagnosed "in utero" by ultrasound scan (4 cases of Potter sequence, 2 cases of prune-belly anomaly, 3 cases of polymalformed infants with urinary involvement, 10 cases of hydronephrosis, 1 case of ectopic kidney). In 8 newborns a surgical treatment was successfully performed. Eight newborns died and in other 4 cases clinical and ultrasonographic are not yet fulfilled. In 2 cases the prenatal diagnosis of urinary tract malformations was not confirmed by the postnatal evaluation. Our experience shows that the prenatal diagnosis of congenital malformations of urinary tract is particularly useful, even considering the opportunities of perinatal management and postnatal surgical treatment in several cases.

Abnormalities, Multiple↗
PubMedDate not supplied

[Ultrasonics in the diagnosis and monitoring of cryptorchism in children].

The diagnostic reliability of US was investigated in the study of cryptorchidism during a 9-month clinical and US trial performed on 52 children (mean age 4.3 years). Cryptorchidism was unilateral in 44 cases (24 on the left side and 20 on the right side), and bilateral in 8 cases. Of 60 cryptorchid testes, 53--belonging to 45 of 52 patients--were located in the inguinal region (18 along the canal, 20 at the external ring, and 15 at the internal one); the others 7--belonging to the remaining 7 subjects--were found in an extra-inguinal region (4 in paravesical location and 3 in the inferior abdomen). US confirmed 29 undescended testes with clinical evidence in the inguinal region and identified, in the same area, 24 other testes which had been missed at clinical examination. In addition, US provided useful information as to both structure and volumetry of the gonads. On the other hand, US failed to provide reliable diagnostic results in the rare cases of pelvic and abdominal cryptorchidism, where precise testes localization was achieved by CT. US is the diagnostic technique of choice in the study of cryptorchidism (after clinical examination): the method is non-invasive and simple, has low cost and its use is widespread; moreover, US does not administer ionizing radiations. According to our experience, US had 88.3% diagnostic sensitivity as for undescended testes (53 of 60), and 100% specificity. In addition, US monitoring allowed clinical efficacy of therapeutic trials to be verified in 25 patients (17 sensitive to therapy): 16 of them were treated with human Chorionic Gonadotropin (hCG) and 9 with Luteinizing Hormone-Releasing Hormone (LH-RH).

Child↗