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Revista Cubana de Ortopedia y Traumatología
versión On-line ISSN 1561-3100
Resumen
MARCHENA IDAVOY, José Luis et al. Scheuthauer-Marie-Sainton syndrome. Rev Cubana Ortop Traumatol [online]. 2019, vol.33, n.2 Epub 10-Jun-2020. ISSN 1561-3100.
Scheuthauer Marie Sainton syndrome is a rare disease that follows an autosomal dominant pattern of inheritance with variable expressivity. We report a case of a 74-year-old male patient, who was born by dystocic delivery (cesarean section) due to maternal cephalopelvic disproportion. He went to the Comprehensive General Medicine consultation at Efraín Mayor Amaro Teaching Community Clinic, Cotorro municipality, Havana, with a cough and runny nose. It was interpreted as a common cold and he was prescribed abundant fluids, analgesics, antihistamines and vitamin C. On physical examination it was found that the patient suffered from Scheuthauer Marie Sainton syndrome, as he had absence of both clavicles, bone deformities and dental abnormalities. In addition, he was noticed to have flared chest, which is evident in the newborn period. The patient was referred to the stomatology consultation for the treatment of this disease. No corrective bone surgery was performed at the patient's discretion.
Palabras clave : Scheuthauer-Marie-Sainton Syndrome; cleidocranial dysostosis; craniofacial dysplasia; clavicular dysplasia.