Butterfly vertebra: A case report

Sonel, Birkan; Yalçın, Peyman; Öztürk, Erhan Arif; Bökesoy, Işık

doi:10.1016/s0899-7071(01)00266-2

Cited by 35 publications

(27 citation statements)

References 10 publications

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“…Boulet et al [1] described a novel case of S1 sagittal cleft vertebra, accompanied by space narrowing at L5-S1 level. Butterfly formation of vertebra can be part of syndromic diseases such as Pfeiffer, Jarcho-Levin, Crouzon or Alagille [1,16] or associated by additional spinal anomalies such as intervertebral bars, supernumerary lumbar vertebrae, spina bifida, diastematomyelia, kyphosis/scoliosis or kyphoscoliosis [5].…”

Section: Discussionmentioning

confidence: 99%

“…Clinical manifestations usually include chronic, periodic low back pain, usually of many years duration before diagnosis, without neurological deficits [1,4,5,16,18]. It was considered to be of low clinical importance.…”

Section: Discussionmentioning

confidence: 99%

“…It was considered to be of low clinical importance. However, raised knowledge on spinal biomechanics established the belief that malformations of the lumbosacral junction interfere with force transmission from spine to pelvis and compromise spine stability, accelerating intervertebral disc or/and apophyseal joints degeneration [1,4,16,18] and causing non-specific low back pain. Neurologic symptomatology can occur in cases of co-existence with adjacent level disc herniation.…”

Section: Discussionmentioning

confidence: 99%

“…Neurologic symptomatology can occur in cases of co-existence with adjacent level disc herniation. Herniated disc may be located at inferior [16], superior [1] or correspondent level protruding throughout the sagittal cleft [4]. Cui et al [5] described a novel case of L6 butterfly vertebra associated with scoliosis and spondylolisthesis at L5-L6 and L6-S1 levels, where altered lumbosacral anatomy due to butterfly vertebra caused entrapment of L5, L6 roots and neurologic deficit [5].…”

Section: Discussionmentioning

confidence: 99%

“…Moreover, alteration in vascular supply to the anterior area of vertebral body is a potential aetiologic factor for anterior hypoplasia. Subsequent ventral sedimentation and kyphosis can compress the spinal cord, especially in thoracic region, where the spinal canal diameter is smaller [16]. Treatment is symptomatic and in most cases conservative.…”

Section: Discussionmentioning

confidence: 99%

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Butterfly vertebra. A case report and a short review of the literature

Kapetanakis

Giovannopoulou²,

Nastoulis³

et al. 2016

Folia Morphol

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 3 more Smart Citations

Butterfly vertebra. A case report and a short review of the literature

Kapetanakis

Giovannopoulou²,

Nastoulis³

et al. 2016

Folia Morphol

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References

2023

Asymptomatic Osseous Variations of the Postcranial Human Skeleton

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Clinical phenotype of lathosterolosis

Rossi

D’Armiento

Parisi

et al. 2007

American J of Med Genetics Pt A

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Lathosterolosis (LS) is a defect of cholesterol biosynthesis due to the deficiency of the enzyme sterol-C5-desaturase. Only two patients have been described to date, both presenting with multiple malformations, mental retardation, and liver involvement. In addition in one of them pathological examination revealed mucolipidosis-like inclusions on optic microscopy analysis, and peculiar lysosomal lamellar bodies on electron microscopy analysis. This study is focused on a better characterization of the clinical phenotype of LS. We describe a further case in a fetus, sibling of the first patient reported, presenting with neural tube defect, craniofacial and limb anomalies, and prenatal liver involvement. The fetal phenotype suggests the possible occurrence of significant intrafamilial variability in LS, and expands the phenotypic spectrum of the disease. Histological examination of autopsy samples from the fetus and skin fibroblasts from the living sibling suggested that the mucolipidosis-like picture previously reported is not a constant feature of LS, being possibly associated with the most severe biochemical defects, but confirmed the ultrastructural finding of lamellar inclusions. The LS phenotype appears to be characterized by the distinctive association of a recognizable pattern of congenital anomalies, involving axial and appendicular skeleton, liver, central nervous and urogenital systems, and lysosomal storage. This condition partially overlaps with other defects of sterol metabolism, suggesting intriguing pathogenic links among these conditions.

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Butterfly vertebra: A case report

Cited by 35 publications

References 10 publications

Butterfly vertebra. A case report and a short review of the literature

Butterfly vertebra. A case report and a short review of the literature

References

Clinical phenotype of lathosterolosis

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