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Biomedical subjects

A Quintana Castilla

Publications and source records attributed to A Quintana Castilla.

6 recordsLinked to original sources

[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

[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

[Dermatoglyphic patterns in cryptorchism].

Digital and palmar dermatoglyphic patterns of 155 children with cryptorchidy has been studied. Results were compared to two control groups of Spanish normal population. 50 and 300 males respectively, showing the following statistically significant differences: 1. High incidence of whorls (37.4% vs. 22.2% and 29.5%) and low frequency of ulnar loops (51.5 vs. 66.4 0 and 60.8%) on fingers. 2. Frequent recurrence of some digital patterns, with a higher frequency of accumulated whorls and lower frequency of accumulated ulnar loops. 3. Increased amplitude of atd angle. 4. No differences in finger ridge count or ab ridge count.

Child

[Fetal mortality in families with labio-palatal clefts].

Fetal mortality in 110 families of patients with cleft lip with or without cleft palate is analyzed and correlated with liability. Because there was no significant difference, authors discussed these findings with references to multifactorial two-threshold hypothesis.

Abnormalities, Multiple