Biomedical subjects

S Lungarotti

Publications and source records attributed to S Lungarotti.

9 recordsLinked to original sources

PubMed1993

Omphalocele and gastroschisis: a collaborative study of five Italian congenital malformation registries.

During 1984-1989, 116 cases of omphalocele and 42 cases of gastroschisis were detected among 736,760 consecutive births in the area covered by five Italian congenital malformation registries. The prevalence rate was 1.6 per 10,000 for omphalocele and 0.6 per 10,000 for gastroschisis. Three additional cases were detected among spontaneous abortions, giving a total of 117 cases of omphalocele and 44 of gastroschisis. No variations in prevalence rates were observed among registries. A cluster of omphalocele was found in 1989 in Firenze. All cases were sporadic except for one infant with two sibs with Beckwith-Wiedemann syndrome. A predominance of male infants was observed for both defects. This study confirms the very young maternal age for isolated gastroschisis as compared to that for omphalocele and controls. Birth weight and the percentage of small-for-date is different among isolated gastroschisis, omphalocele and controls. Associated anomalies occurred in 45 cases of omphalocele and 11 cases of gastroschisis. Our data confirm the association of omphalocele with trisomies 13 and 18. Twelve cases of omphalocele and gastroschisis with associated limb defects were classified as limb body wall complex. The possible differences in etiopathology between omphalocele and gastroschisis, both isolated and associated, are discussed.

Abnormalities, Multiple↗

PubMed1985

Audiological findings in Down's children.

The authors have investigated the auditory function in 35 Down's subjects, aged between 1 month and 16 years. Clinical examination revealed the occurrence of impaired nasal breathing in 18 subjects (51.4%), while otoscopy results were bilaterally normal in 12 cases (34.3%). Behavioural pure-tone audiometry yielded reliable results in 10 children (28.6%), impedance tests in 28 (80.0%), and brainstem audiometry in 29 (82.9%). A clinical and audiological follow-up has been performed in 11 cases (31.4%). Pure-tone audiometry, which may be employed in all cases only beyond 8 years of age, revealed a conductive hearing loss in 7 cases (20.0%). Impedance tests, whose usefulness is limited by the high occurrence of external ear canal stenosis, showed bilateral type A tympanograms only in 8 cases (28.6%). Stapedial reflex data were often missing, even in presence of a type A tympanogram, due to the weakness of tubaric muscles and to the presence of ossicles abnormalities. ABR has been performed in 29 cases (82.9%) and resulted to be as effective as in the normal population. It revealed a normal configuration concerning threshold and morphology in 16 cases (55.1%). The authors conclude that middle ear pathology in the Down's population is more frequent than expected on clinical basis and that objective tests are mandatory in order to obtain a reliable evaluation. While impedance tests are very sensible in detecting mild middle ear pathologies, but are not effective in threshold definition, brainstem audiometry is the choice tool in the uncooperative child, even if it cannot allow a differential diagnosis between normality and mild low-frequency conductive hearing losses.

Acoustic Impedance Tests↗

PubMed1984

Fibrochondrogenesis: radiologic and histologic studies.

Fibrochondrogenesis is a distinct, neonatally lethal, short-limb skeletal dysplasia which was first described in a single patient in 1978. We report the radiographic and morphologic studies of 2 additional unrelated stillborn infants with fibrochondrogenesis. This syndrome has distinct radiographic and chondro-osseous morphologic defects different from those seen in the other known skeletal dysplasias. The long bones are short and dumbbell-shaped with metaphyseal flare. The spine is platyspondylic with superior-inferior clefting defects, and the ribs are short and distally cupped. The growth-plate cartilage is grossly disorganized and has a densely fibrous collagenous matrix when examined by light and electron microscopy. Light, transmission, and scanning electron microscopy shows diaphyseal and metaphyseal trabecular bone to be normal.

Abnormalities, Multiple↗

PubMed1983

[Report of an atypical case of Goldenhar syndrome].

The authors report an atypical case of Goldenhar syndrome characterized by hemifacial and cranial hypoplasia associated with severe microtia and anophthalmia on the right side, antimongoloid palpebral fissures, epibulbar epidermoid, corneal anesthesia and preauricular tags on the left side. The bilateral presence of characteristic features of Goldenhar syndrome is rare and lends support to the possibility that the patient presents an intermediate form of developmental defect of the first branchial arch. The differential diagnosis is discussed.

Adolescent↗

PubMed1972