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MEDISAN
versão On-line ISSN 1029-3019
Resumo
SANTANA HERNANDEZ, Elayne Esther; TAMAYO CHANG, Víctor Jesús e GONZALEZ ANTA, Ana María. Klippel-Feil syndrome in an infant. MEDISAN [online]. 2022, vol.26, n.3 Epub 16-Maio-2022. ISSN 1029-3019.
The case report of an 11 months infant is presented, who was referred to the Clinical Genetics Service of the Medical Genetics Provincial Center in Holguín province, due to facial dysmorphias associated with motor retardation, short neck and decreasing movements. Interrogation, exhaustive physical exam and radiological studies of cervical column were carried out that showed the fusion of cervical vertebras, which allowed to diagnose the Klippel-Feil syndrome. A qualification with exercises was projected to strengthen the paravertebral muscles and genetic advice to the family was provided.
Palavras-chave : infant; synostosis; cervical vertebras; klippel-Feil syndrome.