A case of Smith-Lemli-Opitz Syndrome, defect of cholesterol biosynthesis.

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.

Occurrence of Dandy-Walker anomaly in a familial case of distal arthogryposis type IIB.

We present a family affected with distal arthrogryposis type IIB (DA IIB) in three generations. The coincidental finding of Dandy-Walker anomaly in the proposita arouses the question whether Dandy-Walker anomaly is part of the DA IIB spectrum or whether the Aase-Smith syndrome belongs to the DA spectrum.

Dermatoglyphics in von Recklinghausen neurofibromatosis.

We studied dermatoglyphic traits in 27 patients (12 males and 15 females) with neurofibromatosis type I (NF-1) to verify which characteristics may be considered typical of this disorder. The frequency of digital central pockets in the patients was significantly greater than in control individuals (P less than .005), but when we evaluated the sexes separately, the difference was significant only among females (P less than .002). The distribution of central pockets on the various fingers was significantly different in affected females, compared with normal controls, but only on fingers II (P less than .05), IV (P .002), and V (P less than .05). The quantitative finger tip pattern values and the total finger ridge count (TFRC) were always higher in the patients, as well as was the a-b ridge count. The latter was significantly increased only on the right hand in females (P less than .01). Among the patients, the atd angle values were increased on both hands of females and on the right hand in males, whereas both the ulnar index A'-d and the a-t' ridge counts were diminished. The frequency of high endings (5' or 5") of line A was increased in NF-1 patients on both hands. Like in previous investigations, our patients showed an increased number of secondary creases, limited to II degree according to Vormittag et al. [1986] (P less than .048). Our results only partially confirmed prior data. Therefore, we think that there is no typical dermatoglyphic pattern in NF-1 and that this parameter is not a diagnostic indicator in this disorder.

A patient defines the interstitial 1q deletion syndrome characterized by antithrombin III deficiency.

A patient with microbrachycephaly, high forehead, long philtrum, thin upper lip, downturned corners of the mouth, low set ears with overlapping helix, fifth-finger clinodactyly, small hands and feet, bilateral transverse palmar crease, low total finger ridge count, hypotonia, severe growth and psychomotor delay, mild hypoplasia of corpus callosum, and Arnold-Chiari type 1 malformation is reported. The karyotype showed 46, XY, del(1)(q23q31.2). Coagulation factor V (F5, 1q23) and coagulation factor XIII (F13B, 1q31-q32.1) levels were normal. As expected, antithrombin III (AT3, 1q23-q25.1) serum level and activity were half of normal. We performed a review of the literature on proximal and intermediate deletion 1q syndrome, and we hypothesize the existence of only one 1q interstitial deletion syndrome, clinically characterized by ATIII deficiency.

Confirmation of the colobomatous macrophthalmia with microcornea syndrome: report of another family.

We report on the occurrence of microcornea, coloboma, and macrophthalmia in 4 generations of an Italian family. The patients had no additional physical anomalies, were of normal intelligence, and had a normal karyotype. This condition has been reported in only 1 family [Bateman and Maumenee, 1984: Ophthalmol Pediatr Genet 4:59-66]. The recurrence of this distinctive ocular pattern in our opinion confirms the existence of a new syndrome, with autosomal dominant inheritance.

Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation.

We describe 2 children with severe ptosis, trigonocephaly, broad nasal bridge, and major brain malformation. A total of 8 children have been reported who share most of these findings. Two of the individuals have had identical pericentric inversions involving chromosome 2p12-q14. These cases appear to represent a unique malformation syndrome.

Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome.

We report on a clinical-genetic study of 16 Wolf-Hirschhorn syndrome (WHS) patients. Hemizygosity of 4p16.3 was detected by conventional prometaphase chromosome analysis (11 patients) or by molecular probes on apparently normal chromosomes (4 patients). One patient had normal chromosomes without a detectable molecular deletion within the WHS "critical region." In each deleted patient, the deletion was demonstrated to be terminal by fluorescence in situ hybridization (FISH). The proximal breakpoint of the rearrangement was established by prometaphase chromosome analysis in cases with a visible deletion. It was within the 4p16.1 band in six patients, apparently coincident with the distal half of this band in five patients. The extent of each of the four submicroscopic deletions was established by FISH analyses with a set of overlapping cosmid clones spanning the 4p16.3 region. We found ample variations in both the size of the deletions and the position of the respective breakpoints. The precise definition of the cytogenetic defect permitted an analysis of the genotype-phenotype correlations in WHS, leading to the proposal of a set of minimal diagnostic criteria, which in turn may facilitate the selection of critical patients in the search for the gene(s) responsible for this disorder. We observed that genotype-phenotype correlations in WHS mostly depend on the size of the deletion, a deletion of <3.5 Mb resulting in a mild phenotype, in which malformations are absent. The absence of a detectable molecular deletion is still consistent with a WHS diagnosis. Based on these observations a "minimal" WHS phenotype was inferred, the clinical manifestations of which are restricted to the typical facial appearance, mild mental and growth retardation, and congenital hypotonia.

Hypoglycemia in childhood: a clinical approach.

A child with hypoglycemia presents very frequently an urgent diagnostic and therapeutic challenge. The main causes of hypoglycemia and the clinical approach and laboratory investigations are reviewed underlining that the relationship between the hypoglycemic event and the last meal can aid in diagnosis, in particular for metabolic diseases. Only a correct and precise diagnosis can allow adequate and appropriate treatment and prevention of future hypoglycemic events.

[Hyperbaric therapy of multiple sclerosis]. / La terapia iperbarica della sclerosi multipla.

After a review of theories on the aetiopathogenesis of multiple sclerosis and the theoretical basis of present day therapy of the disease, the known results of general hyperbaric oxygen treatment are listed. A detailed description of the therapeutic action of hyperbaric oxygen therapy (HOT) in multiple sclerosis and the biological theory behind the treatment follows. Finally the results obtained on 1000 patients treated in the 1977-81 period are reported.

[Hyperbaric treatment in the post-bronchitic emphysema]. / La terapia iperbarica della malattia enfisematosa post-bronchitica

Following some introductory mention of the physiology of hyperbaric oxygen therapy and some notes on the physiology of postbronchitic emphysema and its cardiac, hepatic, renal and neurological sequelae, a personal method of hyperbaric treatment is described. The results in the first 50 emphysematous patients submitted to this therapy are reported along with those of the examinations carried out to evaluate respiratory function, and changes in haematosis, and cardiac, hepatic, neurological and renal function. It is concluded that hyperbaric treatment of postbronchitic emphysema should be considered of choice for quick, effective resolution of alterations in haematosis and the organic sequelae deriving from respiratory insufficiency. In association with other therapy (antibiotics, anti-inflammatory and balsamic drugs) it is also capable of stopping or usefully delaying the disease's development.

[Pharmacological prevention of exercise-induced bronchospasm: review of the literature and trial of disodium cromoglycate, fenoterol and ipratropium bromide in a pediatric population]. / Prevenzione farmacologica della broncostruzione indotta dall'esercizio fisico: revisione della letteratura e sperimentazione del disodiocromoglicato, del fenoterolo e del bromuro di ipratropio su una popolazione pediatrica.

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.

[Long-term effects of neonatal medium-degree hyperbilirubinemia on brainstem evoked potentials]. / Effetti a lungo termine della iperbilirubinemia neonatale di modico grado sui potenziali evocati troncoencefalici.

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.

[Evaluation of the metacarpophalangeal profile (MPP) and of the dermatoglyphic pattern in Crouzon's syndrome]. / Valutazione del profilo metacarpofalangeo (MPP) e del pattern dermatoglifico nella s. di Crouzon.

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.

Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome possibly localised on chromosome 2.

A patient with a phenotype resembling that of three children recently reported is described. His karyotype shows a pericentric inversion of chromosome 2, very similar to another child previously reported. We discuss the possibility that all these cases constitute a distinct syndrome.

Unknown syndrome: peculiar face, severe hypodontia of permanent teeth, and precocious choroid calcifications.

We describe a mother and her twin daughters affected with severe hypodontia of the permanent teeth, precocious calcification of the choroid plexus, and minor digital anomalies. The presence of inner telecanthus, broad and flattened nasal bridge, mild ocular proptosis, small nose with anteverted nostrils, and slight microretrognathia gives them an unusual appearance. All three affected persons are of normal intelligence.