Klippel–Feil anomaly and neural tube defects

McGaughran, Julie

doi:10.1002/ajmg.a.20304

Cited by 2 publications

(3 citation statements)

References 18 publications

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“…Diastematomyelia is defi ned as a double cord malformation that mainly occurs in the lower thoracic and lumbar regions. The association of thoracolumbar diastematomyelia with KFS occurs in approximately 20% of patients (8,9). Our patient also had thorasic diastematomyelia.…”

Section: Discussionsupporting

confidence: 48%

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A Newborn with Klippel-Feil Syndrome in Association of Annular Pancreas and Diastematomyelia

Akman¹,

Demirel²,

Şenaylı³

et al. 2014

Turkish J Pediatr Dis

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Klippel-Feil syndrome (KFS) is a complex syndrome associated with osseous and visceral anomalies that include the classical clinical triad of short neck, limitation of head and neck movements and low posterior hairline. Multiple congenital anomalies have been associated with this disease. We reported the fi rst case of KFS presented with the symptoms of duodenal obstruction and annular pancreas detected intraoperatively.

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Section: Discussionsupporting

confidence: 48%

“…The association of thoracolumbar diastematomyelia with KFS occurs in approximately 20% of patients (8,9). Our patient also had thorasic diastematomyelia.…”

Section: Discussionmentioning

confidence: 80%

A Newborn with Klippel-Feil Syndrome in Association of Annular Pancreas and Diastematomyelia

Akman¹,

Demirel²,

Şenaylı³

et al. 2014

Turkish J Pediatr Dis

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“…Therefore, in skull 778, all the described findings are compatible with Type-II KFS, although, as only two cervical vertebrae are available, a completely accurate diagnostic assessment cannot be made. Type-II KFS corresponds to about 26% of all cases of this syndrome (McGaughran 2004), and usually includes atlanto-occipital fusion.…”

Section: Differential Diagnosismentioning

confidence: 99%

Klippel-Feil Syndrome: morphological findings in a 19th-century musealized skull from Viana del Bollo (Orense, Spain)

López

Dorado

Galassi

et al. 2022

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The aim of this study is to show the cranial alterations that Klippel-Feil syndrome produced in a case older than 200 years. Few paleopathological case studies diagnosed as Klippel-Feil Syndrome are focused on cranial abnormalities. A skull numbered 778, belonging to the Federico Olóriz Aguilera collection (Spain, 19th century AD), Universidad Complutense de Madrid, belonging to a young man born in a town in the North of Spain, was investigated. This cranium was visually inspected, hence macroscopically and paleoradiologically studied, using the images obtained through conventional radiology and CT scan imaging. In addition to the vertebral fusion between the atlas (C1) and the axis (C2), atlanto-occipital fusion, basilar impression, obliteration of the sagittal suture, enlarged parietal foramina and significant craniofacial asymmetry affecting maxillary bones, sphenoid, orbits, nasal bones and both palatines were observed. Morphological findings make it possible to diagnose a Klippel-Feil syndrome, possibly type-II, although the lack of the rest of the spinal column renders it impossible to verify other spinal anomalies. As a limitation, only the cranium and two cervical vertebrae were preserved, hence the possible involvement of the rest of the skeleton cannot be verified.

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Klippel–Feil anomaly and neural tube defects

Cited by 2 publications

References 18 publications

A Newborn with Klippel-Feil Syndrome in Association of Annular Pancreas and Diastematomyelia

A Newborn with Klippel-Feil Syndrome in Association of Annular Pancreas and Diastematomyelia

Klippel-Feil Syndrome: morphological findings in a 19th-century musealized skull from Viana del Bollo (Orense, Spain)

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