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Biomedical subjects

G Lorenzo Sanz

Publications and source records attributed to G Lorenzo Sanz.

7 recordsLinked to original sources
PubMed1996

[Septo-optic dysplasia: report of 6 patients studied with MR and discussion on its pathogenesis].

OBJECTIVE: Septo-optic dysplasia, which consists of the association of the hypoplasia of the optic nerves and the agenesis of the septum pellucidum, is frequently associated with deficiency of hypothalamic releasing factors. In Magnetic Resonance (MR) of these patients, anomalies in the form and size of the pituitary stalk, adenohypophysis and neurohypophysis are found. Some cases show schizencephaly and it has been proposed as an added component of the syndrome by some authors. This fact has been refuted by others. PATIENTS AND METHODS: We present the clinical and neuroanatomic revision of six children with septo-optic dysplasia studied by MR imaging over the last five years in our Department of Neuropediatrics. The aim was, that through the neuroembryological discussion of the morphopathological aspects of the patients, to determine the malformation and the time in which the injury, which was the underlying cause, occurred. RESULTS: From the six cases, in two only disruptive signs were evident with the optic nerves being affected asymmetrically, disruption of the corpus callosum, falx cerebri indemnity and effects in the cortex conformation. This was opposed to the dysgenic features in the other four cases which had no disruptive features. CONCLUSIONS: Our findings suggest that this entity could be the result of at least two different pathogenic processes, that is, a minor form of holoprosencephaly (dysgenesis) or a disruption which, therefore, occurs later in gestation.

Abnormalities, Multiple↗
PubMed1993

[Severe bone malformations in fetal valproic acid disease].

The dysmorphogenic and teratogenic effects of valproic acid, when administered to pregnant women, have been noted in several reports. We report the case of a 3-month-old infant with multiple congenital anomalies, including severe skeletal malformations, congenital heart defect and facial dysmorphism, whose mother was treated with valproic acid (1000 mg/day) throughout the pregnancy. This is the second published case reporting major skeletal malformations and supports the possible teratogenic effects of valproic acid.

Abnormalities, Drug-Induced↗
PubMed1989

[Type C hereditary brachydactyly].

We report 2 generations with type C hereditary brachydactyly of dominant autosomal inheritance of variable expressiveness. The most characteristic data was the shortening of the middle phalanges of the second, third and fifth finger as well as the first metacarpal. Short stature was observed in three of the patients studied. The goal of this study was aimed at stimulating GH pharmacologically and determining its 24 h physiologic secretion, as well as somatomedin C levels. All the determinations were within the normal range. The deficient growth shown by these patients is a constitutional growth delay, possibly an expression of type C brachydactyly.

Child, Preschool↗