[3 sisters with pure gonadal dysgenesis and XY karyotype].
Explore the source record for details and available documents.
Adolescent↗
Biomedical subjects
M Ciovîrnache
Publications and source records attributed to M Ciovîrnache.
Modifications of dermatoglyphics in thyreopathy.
Examination of the digito-palmar and plantar dermatoglyphics of 50 thyreopathic women revealed no statistically significant variations depending on the clinical form of thyreopathy, for the quantitative aspects of digito-palmar and plantar dermatoglyphics. Qualitative determatoglyphic differences were found (reoccurrence of the patterns on areas of the palm and plant) according to the clinical form of thyreopathy. These differences are more obvious in Graves's disease patients which may support the idea of a hereditary factor implied in the disease.
Adult↗
Somatotype of children with gonadal dysgenesis and structural anomalies of genitalia.
The somatotype of 92 children with sexual structural anomalies of whom 28 with female Turner's syndrome, 22 with Klinefelter's syndrome, 20 with adreno-genital syndrome, 14 with hypospadias, 2 with Reinfenstein's syndrome and 6 with feminizing testis was established on the basis of biometric and genetically determined morphologic characteristics (dermatoglyphics, pigment complex). A morphogram utilizing 12 anthropometric and 5 dermatoglyphic parameters was constructed; it can be used in phenotypical differentiation of the anatomo-clinical variants of structural anomalies of the genitalia and gonads. The 12 anthropometric parameters were: weight, stature, height of the head + neck segment, the sternum-symphysis distance, length of arms and legs, the biacromial and bitrochanterian diameters, the circumference of the thorax, abdomen, hips and head. The dermatoglyphic parameters were: the digital delta index, TFRC, a-b ridge count, the ATD angle and the A line obliquity. For longitudinal assessment of the phenotype of children with structural anomalies of genitalia and gonads, the authors propose utilization of the percentile diagrams regarding weight, stature, pubes to floor distance, and the biacromial and bitrochanterian diameters.
Adolescent↗
A case of long arm deletion of the X-chromosome in a patient with Turner syndrome.
The work presents the clinical and cytogenetic findings in a 16 year-old female-patient with Turnerian phenotype and 46 XX, del(X)(q 13 leads to q ter) caryotype. The authors discuss the difficulties of correlating the caryotype to the phenotype in X chromosome structural aberation cases.
Adolescent↗
49 XXXXY syndrome with profound mental deficiency.
Explore the source record for details and available documents.
Abnormalities, Multiple↗
Somatotyping in the obese children and adolescents.
Age-related somatic variability studied by 15 anthropometric parameters was assessed in 278 subjects (138 boys and 140 girls) aged between 5 and 20 years. Of these, 30% had simple obesity, 10.0% obesity associated with hypothyroidism, 10.0% obesity with diabetes, 25% obesity with adrenocortical reaction, 23.5% functional adiposo-genital syndrome and 1.5% Cushing's syndrome. The peculiarities related to the somatic development as a whole, the degree of bone development, and adiposity are interpreted in the main clinical forms of obesity, on the basis of the morphogram.
Adolescent↗
Child with 46, XY/46, XY, 18p- mosaic.
A 46, XY/46, XY 18 p-mosaic was encountered in a child with cranio-facial dysmorphia, anomalies of the fingers, metaphyseal and epiphyseal dysgenesis, psycho-motor backwardness, anomalies of EEG and convulsions.
Craniofacial Dysostosis↗