We report the case of a child with Smith-Lemli-Opitz Syndrome. The pregnancy was complicated by prenatal growth retardation. The baby was admitted to the Neonatal Intensive Care Unit of Chieti when she was five months old. She showed postnatal growth retardation, trouble sucking and swallowing, microcephaly and multiple major and minor malformations, including characteristic facial features and 2-3 syndactyly of the toes. We found correlations between multiple congenital malformations, failure to thrive and low plasmatic cholesterol measurement.

Adult↗

PubMedDate not supplied

[Meleda disease: clinical and therapeutic contribution].

Explore the source record for details and available documents.

Administration, Oral↗

PubMedDate not supplied

[Behavior of blood gases in conditions of environmental hyper-pressure].

Explore the source record for details and available documents.

Animals↗

PubMedDate not supplied

[Pharmacological prevention of exercise-induced bronchospasm: review of the literature and trial of disodium cromoglycate, fenoterol and ipratropium bromide in a pediatric population].

Exercise-induced bronchospasm (EIB) is an instrumentally-measurable paraphysiologic phenomenon, related to bronchial hyperreactivity in asthmatic children. Therefore EIB is very useful to evaluate airways hyperreactivity and pharmacological treatment in asthmatic child. We have evaluate EIB inhibition and bronchodilator effect of three drugs: Disodiumcromoglycate (DSCG), Fenoterol (F), Ipratropium Bromide (IB), in a group of 27 asymptomatic and therapy-free asthmatic children. The bronchial provocation test was performed by physical exercise (free-running for six minutes) according to criteria stated by Paediatric Bronchopneumology Group of S.I.P. Therefore we have analysed the most recent studies to correlate our results with other's data: our study confirm DSCG and Beta-adrenergic drugs effectiveness; theophylline has a similar validity, but is less useful in clinical practice; anticholinergic drugs and corticosteroids seem less valid; the new drugs (Ketotifen, alpha-blockers and calcium antagonists) need further controlled studies.

Adolescent↗

PubMedDate not supplied

[Evaluation of the metacarpophalangeal profile (MPP) and of the dermatoglyphic pattern in Crouzon's syndrome].

The evaluation of metacarpophalangeal profiles (MPP) and dermathoglyphics patterns in two families affected by Crouzon's syndrome differing from genic expressivity, showed indicative findings for brachidactyly and "broad thumb and hallux" character. These abnormalities show Crouzon's disease not to be a true craniofacial dysostosis and number it among the wide sphere of syndromes presenting acrocephalic alterations.

Child↗

PubMedDate not supplied

[Long-term effects of neonatal medium-degree hyperbilirubinemia on brainstem evoked potentials].

Since neonatal hyperbilirubinemia (greater than 20 mg/100 ml) represents a risk factor for acoustic defects, we examined the effects of moderate hyperbilirubinemia less than 20 mg/100 ml) on the acoustic pathway maturation through the BAEPs technique. Twenty-three children who had suffered from moderate neonatal hyperbilirubinemia (5 FT, 18 PT) were tested at the end of their 1st year. No statistically significant differences were found between their response characteristics and those of a similarly aged control group. We conclude that a low-to-moderate degree of hyperbilirubinemia at birth should not be considered as a potential risk factor affecting the auditory brainstem pathways maturation and functionality.

Evoked Potentials, Auditory↗