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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. [ABSTRACT FROM AUTHOR]

Sprengel's Deformity is the most common congenital malformation of the scapula, it is characterized by an elevation and malrotation of the scapula accompanied by changes in its morphology and neighboring structures. It is associated with various congenital anomalies including Klippel-Feil Syndrome. We present the case of a 5-year-old male with a previous diagnosis of VACTERL syndrome, who is referred to our service and with the help of radiological techniques such as Computed Tomography and its 2D and 3D reconstruction, Sprengel Deformity associated with Klippel-Feil Syndrome was identified. [ABSTRACT FROM AUTHOR]

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Klippel-Feil syndrome is a rare disease, characterized by congenital fusion of two or more cervical vertebrae and can be associated with multiple systems abnormalities such as thoracic and lumbar spines malformations, in addition to lung function alterations. Physiological changes during pregnancy increases the complexity in airway management, thus when both conditions are associated is a true challenge for the anesthesiologist. We present the case of a nulliparous 23-year-old woman with type III Klippel-Feil syndrome, severe pulmonary hypertension at 30.6 weeks of gestation programed for elective cesarean and tubal ligation surgery. She presents a possibly diffi cult airway much like severe scoliosis to the lumbar and dorsal spine. An epidural block was considered for fi rst elect choice for anesthetic. However, after a fail attempt of this technique, it was decided to opt for a subarachnoid block, supplying an adequate anesthetic during the surgery. [ABSTRACT FROM AUTHOR]

Guillain-Barré syndrome is a group of heterogeneous acute polyneuropathies, most frequently associated with a previous enteric infection, with little evidence of associated genetic mutations. Klippel-Feil syndrome and Holt-Oram syndrome are two rare genetic disorders with well-described phenotype-gene relationships. The concurrency of these three syndromes has never been documented in the literature. We present the case of a 14-year old female with Guillain- Barré syndrome with demyelinating and axonal acute motor findings who also has Tetralogy of Fallot, Holt Oram and Klippel Feil syndrome, with the objective of studying this atypical presentation. Although the chromosomal mutations of these three syndromes have not been previously related, this represents a new line of investigation to expand the understanding of the affected patients. [ABSTRACT FROM AUTHOR]

A case of Klippel-Feil syndrome in a female nine years is informed. The patient presented a clinical picture compatible with Klippel-Feil syndrome: short neck with joint movements diminished and low hair implantation. We showed the diagnostics and treatment approach at the primary medicine level, the follow-up until the presence of clinical manifestations of the main clinical problems associated. The liver, cardiovascular, audiology, and muscle-bones are describe and finally some aspects of her physical rehabilitation. [ABSTRACT FROM AUTHOR]

Copyright of Revista Chilena de Pediatría is the property of Revista Chilena de Pediatria and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)