Arterial tortuosity syndrome.

We describe a patient with arterial tortuosity syndrome (ATS), a rare disorder comprising generalized tortuosity and elongation of all major arteries, soft skin, joint laxity, severe keratoconus, and diffuse tortuosity of the carotids and of intracranial arteries. The patient's probably affected brother and sister died at an early age. Cytochemical studies excluded Ehlers-Danlos type IV and type VII syndromes. We review 11 previously described patients.

Peculiar facial appearance and generalized brachydactyly in a patient with congenital onychodysplasia of the index fingers (Iso-Kikuchi syndrome).

We report on a patient with clinical manifestations consistent with a diagnosis of congenital onychodysplasia of the index fingers (COIF). This syndrome has been found mainly in Japan, and as far as we know, this is the first case reported in Italy. In addition to the typical bilateral split nail of the second finger, the patient showed bilateral inguinal hernia, a peculiar face, and short hands. The metacarpophalangeal profile showed a generalized brachydactyly with all the hand long bones below x3 SD. The patient's father showed a peculiar kind of micronychia on both the fifth toes, suggesting a possible autosomal dominant transmission of the syndrome. In utero ischemia of the palmar digital artery and a dysplastic change in the crescent-shaped cap of the distal phalanx are the two main candidate pathogenetic mechanisms that have been proposed. In our opinion, the gradual broadening of the spectrum of this syndrome brings support to the hypothesis of a basal dysplastic pathogenetic mechanism involving not only the index fingers but also perhaps other tissues outside. We think that for the moment the definition of COIF for this syndrome should be maintained, the alternative proposed term "congenital onychodysplasia" being too indefinite.

Macrocephaly-Cutis marmorata telangiectatica congenita without cutis marmorata?

We report on two patients with clinical manifestations consistent with a diagnosis of macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC). Both showed macrocephaly with high forehead, overgrowth, capillary hemangiomata involving philtrum, nose, and lips, and redundant skin. In addition, the first had cutis marmorata and joint laxity. The second had postaxial polydactyly of hands and feet, cutaneous syndactyly of third and fourth right fingers and of second and third right toes without evident cutis marmorata. A magnetic resonance imaging scan showed cerebral alterations in both patients. The first had bilateral cortical dysplasia with frontal bilateral myelinization defect of corona radiata. The second had mild intertonsillar widening, cavum septi pellucidi, small porencephalic areas in the anterolateral region of cellae, and subsequently developed a nonobstructive hydrocephalus. Reviewing all reported cases we propose a new criterion for M-CMTC diagnosis.

Esophageal atresia with distal tracheoesophageal fistula in a patient with fronto-metaphyseal dysplasia.

Fronto-metaphyseal dysplasia (FMD) is an uncommon but clinically striking condition affecting bone and connective tissue. The terms used to define this syndrome fail to cover all the reported findings, the abnormalities not being confined to the metaphyses and to the frontal bones. We report on a patient who, in addition to the clinical manifestations characteristic of the syndrome, showed esophageal atresia with distal tracheoesophageal fistula. Particular emphasis is given to the extraskeletal manifestations of the syndrome reported in the literature.

Bladder carcinoma in Costello syndrome: report on a patient born to consanguineous parents and review.

We report on a 12-year-old boy with Costello syndrome born to consanguineous (first cousins once removed) parents, supporting the hypothesis of recessive transmission of this syndrome. At age 11 years, the patient developed a bladder carcinoma, a rare pediatric tumor not previously described in Costello syndrome. This suggests that an increased risk of malignancy may be part of this condition.

Long first metacarpal in monozygotic twins with probable Baller-Gerold syndrome.

We report on a pair of monozygotic twins with probable Baller-Gerold syndrome (BGS). Twin A had severe coronal craniosynostosis. Twin B had right radioulnar and ipsilateral first metacarpal hypoplasia. Both had bilateral fifth finger clinodactyly. Assuming that the twins were truly monozygotic, a single genetic disorder (i.e., BGS) could explain the variable expression. Together the twins have the typical anomalies of BGS. The diagnosis was supported by the metacarpophalangeal profile (MPP) which confirmed hypoplasia of the first right metacarpal in Twin A and bilateral fifth finger brachymesophalangy in both twins. Furthermore, the MPP showed an unexpected abnormal lengthening of the first metacarpal (unilateral in Twin A and bilateral in Twin B), a previously undetected radial ray defect in BGS. These findings suggest the possibility that the MPP may assist recognition of mild cases of BGS such as those with apparently isolated craniosynostosis or isolated upper limbs defects.

Filippi syndrome: a specific MCA/MR complex within the spectrum of so called "craniodigital syndromes". Report of an additional patient with a peculiar mpp and review of the literature.

Filippi syndrome is a specific Multiple Congenital Abnormalities/Mental Retardation (MCA/MR) complex which must not be confused with other so called "craniodigital syndromes", a heterogeneous group of pathological conditions simply lumped for the combination of different cranial and digital anomalies. We report on a new patient with the characteristic features of Filippi syndrome, comparing him with other reported cases and underlining the peculiar and specific shape of the nasal bridge. The metacarpophalangeal profile in our patient is also quite unusual and could be, if confirmed, a good marker of this syndrome.

A mentally retarded female with distinct facial dysmorphism, joint laxity, clinodactyly and abnormal dermatoglyphics.

We describe a retarded female patient with distinct facial dysmorphism (round puffy cheeks, epicanthal folds, ocular hypertelorism, short broad nose, low set and slanted ears), joint laxity, clinodactyly, abnormal dermatoglyphics (bilateral absence of c palmar triradius and single palmar crease) and a peculiar metacarpophalangeal profile. The possibility of a new MCA/MR is discussed.

Radioulnar synostosis and XYY syndrome.

Radioulnar synostosis in a boy with XYY syndrome is discussed. Only four other cases of radioulnar synostosis with XYY syndrome have been reported in the literature.

[The newborn infant of an assisted-fertilization pregnancy. A clinico-statistical survey]. / Il neonato da gravidanza indotta mediante fecondazione assistita. Contributo clinico-statistico.

A clinical and statistical study on 44 newborns of assisted conception pregnancies indicated birthweight is not significantly lower. At risk pregnancies (twins, diseases) are more frequent, as are caesarean deliveries, preterms, diseases of the newborn as malformations, particularly heart defects.

[Neonatal weight: an analysis of the distribution]. / Peso neonatale: analisi della distribuzione.

We examined birthweight distribution in relation to gestational age from 25 to 42 weeks in a series of 3.526 single newborns and in whom reliability of gestational age was rigorously controlled. To verify the distribution normality the Shapiro-Wilk and the Kolmogorov tests have been applied. Birthweight data follow a gaussian distribution for each gestational age week. Therefore in the birthweight standards estimation the parametric method can safely be applied also when the series includes pathologic and preterm newborns.

[Monitoring of phenobarbital use during the neonatal period by means of urinalysis]. / Monitoraggio del fenobarbital in epoca neonatale mediante dosaggio su urine.

Monitoring of blood barbiturate level was performed in 32 term newborns, who received 6 mg/Kg/die phenobarbital (PB), by assaying blood and urine samples. Cases were grouped according to duration of treatment which varied following multiples of 12 hours from 16 to 100 hours. Serum and urine PB assay was conducted through immunological percentage nephelometric inhibition. Plasma and urine PB levels within each group were significantly correlated (r = 0.8826; p less than 0.001), indicating that, if PB treatment is given without variations in dosage and if diuresis is not impaired, blood barbiturate level may be monitored through urine assays.

[Norms for serum prealbumin in newborn infants]. / Standard della prealbumina serica alla nascita.

Serum prealbumin (TPBA) was assayed at birth in 32 healthy term newborns using immunoprecipitation evaluated with kinetic nephelometry.

[Newborn infants from epileptic mothers: malformation and auxonologic risk]. / Il neonato da madre epilettica: rischio malformativo ed auxologico.

A case-control study was performed to determine if newborns of epileptic mothers have a higher probability of having congenital malformations. Forty seven newborns of epileptic mothers and an equivalent number of controls with no history of epileptic disease and paired for mother's age, parity, type of education were examined. Thirty one mothers had been treated during the first term of pregnancy and 16 had not. A large number of anthropometric parameters were measured in each newborn to minimize the subjective component in diagnosing even minimal malformations and fetal growth abnormalities. To evaluate weight, length and head circumference the neonatal standards of Largo et al. were used. For all other measures the standards of Merlob et al. were used. Single absolute values of the parameters measured were converted into standard points to eliminate the effect of the sex and gestational age variables. The incidence of malformations was not seen to be significantly different in the newborns of epileptic mothers as a whole and divided into the two subgroups (treated and untreated) versus controls. The fetal syndromes described in literature were not observed. Of all the anthropometric measures examined only length was significantly reduced in newborns of epileptic mothers. Maternal epilepsy and its treatment do not appear to be a considerable risk factor for the newborn.

[Epidemiologic investigation of microorganisms and their sensitivity to antibiotics in a neonatal pathology center 1981-1984]. / Indagine epidemiologica sui microrganismi e sulla loro sensibilità agli antibiotici in un centro di patologia neonatale nel triennio 1981-1984.

The cultures performed over a period of three years in a neonatal pathology unit were studied to determine the epidemiological behaviour of the microorganisms present and variations in time of their sensitivity to antibiotics.

[Surveillance of congenital malformations. Monitoring of polydactyly using the Chen method]. / La sorveglianza delle malformazioni congenite. Monitoraggio della polidattilia con il metodo Chen.

The Chen method was adopted to monitor the principal congenital malformations in a large peripheric center. In 1982 two consecutive alarms showed an evident increase in the prevalence at birth of polydactylia. A retrospective analysis of the main risk factors failed to satisfactorily explain this increase.

[The newborn infant of the drug-addicted mother. Experience relative to the period 1978-1986]. / Il neonato da madre tossicodipendente. Esperienze relative al periodo 1978-1986.

Ninety-seven newborns of drug addicted mothers observed in the period 1978-1986 were compared with the same number of controls. Pregnancies are at risk and newborns suffer a higher incidence of tainted amniotic liquid, low birth weight and preterm gestation. The withdrawal syndrome is the most commonly encountered pathology of such newborns.