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Biomedical subjects

S Sanfilippo

Publications and source records attributed to S Sanfilippo.

At least 19 recordsLinked to original sources

Facial midline defect in the fetal alcohol syndrome: embryogenetic considerations in two clinical cases.

We report on two unrelated patients with fetal alcohol syndrome with hypoplasia of the periocular region, resulting in a low and narrow forehead and hypotelorism. Other typical manifestations of the syndrome involving the facial midline are also present. These observations can be added to clinical and experimental evidence from other authors, supporting the concept that the facial anomalies of the fetal alcohol syndrome are the expression of a midline defect originating from the disruption of the ordered development of midline mesoderm cells during early embryogenesis.

Child

IVIC syndrome: report of a second family.

The IVIC syndrome derives its name from the Instituto Venezolano de Investigaciones Cientìficas, where it was described by Arias et al. [Am J Med Genet 6:25-59, 1980]. We report on several individuals in a family with the IVIC syndrome, the second described in the literature. In this family there are 3 affected individuals in 2 generations. This observation shows that the IVIC syndrome is not a private syndrome, and confirms that it is due to an autosomal dominant mutation.

Abnormalities, Multiple

Visual acuity and binocularity in unilateral high myopia.

Thirty-eight patients with unilateral high myopia ranging from 5 to 19 diopters were followed up for a median of two years. All were treated with full-spectacle correction and most had occlusion. When initially examined one patient (3%) had visual acuity of 6/12 (20/40) or better, four patients (12%) had central fusion, and 24 patients (63%) were phoric. At the conclusion of the study 12 patients (32%) had visual acuities of 6/12 (20/40) or better, 17 patients (45%) had central fusion, and 29 patients (76%) were phoric. Age at the start of treatment was not a factor in the versely affect the response to amblyopia was inversely related to both final fusion and final visual acuity.

Adolescent

Cyclic esotropia developing after sttstrabismus surgery.

Cyclic or alternate-day esotropia developed in a patient following strabismus surgery for intermittent exotropia, which resulted in a small overresponse or overcorrection. Surgery, aimed at the deviation on the esotropic days, resulted in binocularity and loss of the cyclic pattern.

Age Factors