INVESTIGADORES
ARRIETA Mario Alberto
congresos y reuniones científicas
Título:
Two womens (18th-20th century) with short stature: the challenge of the differential diagnosis
Autor/es:
ANA LUISA SANTOS; MARIO A. ARRIETA; M. DO ROSARIO MARTINS; V. MARTINS
Lugar:
Berlín
Reunión:
Workshop; 1st Workshop on Ancient Rare Diseases; 2019
Institución organizadora:
Department of Natural Sciences German Archaeological Institute
Resumen:
Short stature may result from familial genetic, chondrodysplasias, endocrine, malnutrition, and/or chronic illnesses. This work discusses the possible aetiologies for the short stature of two females. Individual 1: 26-years-old, from the Coimbra Identified Skeletal Collection, who died of measles in 1920. Her estimated height is 138.91-144.3cm, approximately 3 standard deviations below the average female stature for early 20th century Portugal. The crural, brachial, humero-femoral and intermembral indexes show a proportionate body, uncommon in dwarfism. Skeleton examination revealed a small skull, with prominent frontal, prognathism, obliterated sagittal suture, long/oval foramen magnum, small mandible with masculine features. Other lesions are multi-enamel hypoplasias, cribra orbitalia, porotic hyperostosis and proliferative reaction in the petrous portion of the temporal. Ribs sternal ends are flattened/wider and vertebrae present developmental defects (e.g. atlas with both left transverse foramen and posterior tubercle open, absence of the right transverse foramen in axis, sacrum with six vertebrae). The differential diagnoses take into account clinical and paleopathological knowledge. Among the possible aetiologies are Turner syndrome and idiopathic short stature.Individual 2: glove (similar size of the index and ring fingers) and shoe (12cm) worn by a woman at age 55, who lived at end of 17th/early 18th century. According to the inventory description at the Museum of Science, she had a proportionate body and the height of a 6 year-old-girl. The stature (less than 1m) points to achondroplasia or hypopituitarism. These individuals clearly show the difficulties of retrospective diagnosis because there are more than 200 conditions which cause serious growth problems.