Table 2.
Syndromes Associated With Butterfly Vertebrae.
| Syndrome | Description |
|---|---|
| Alagille syndrome | An autosomal dominant disease characterized by a lack of the interlobular bile ducts, facial dysmorphism, pulmonary stenosis, posterior embryotoxon, and butterfly vertebrae (also known as arteriohepatic dysplasia).28 It may be asymptomatic and should be suspected in cases of butterfly vertebrae.28 In a case series of 92 patients with Alagille syndrome, butterfly vertebrae were present in 51% of patients.29 |
| Ankylosing spondylitis | A chronic inflammatory arthritis typically affecting the sacroiliac joints.30 |
| Behçet’s disease | A systemic vasculitis associated with oral and genital ulcers as well as arthritis.31,32 |
| Crouzon syndrome | A craniosynostosis syndrome associated with ocular proptosis and shallow orbits, as well as butterfly vertebrae. Anderson et al33 published the largest series reporting the spinal findings for this syndrome. In this series, 5 of 44 had evidence of cervical butterfly vertebrae.33 These results were not included in our current study as there was not enough patient data resolution to combine it with other cases. |
| Fryns syndrome | An autosomal recessive condition consisting of congenital diaphragmatic defect, abnormal facies, small thorax with widely spaced nipples, limb hypoplasia, hernia, and pulmonary hypoplasia.34 |
| Goldenhar syndrome | A sporadic genetic disease that consists of a spectrum of auriculovertebral malformations including eye, ear, and vertebral anomalies. It is hypothesized to result from embryological disturbance of the ectoderm.35 |
| Lathosterolosis | A defect in cholesterol synthesis that presents with multiple malformations, mental retardation, and liver pathology.36 |
| Jarcho-Levin syndrome/spondylocostal dysostosis | A spectrum of congenital malformations of the ribs and vertebrae with associated short stature.37-39 |
| Kabuki syndrome | A condition of unknown etiology with facial malformations that mimic the makeup worn in the Japanese Kabuki theater, mental retardation, and abnormal dentition.40 |
| Kallman syndrome | A mutation in the FGFR-1 gene characterized by hypogonadotropic hypogonadism and anosmia.41 |
| Klippel-Feil syndrome | Congenital cervical synostosis of 2 or more vertebrae resulting from a mutation of the SGM1 gene causing fusion of cervical vertebrae. Clinical signs include low hairline, short neck, and limited range of motion of neck.42 |
| Lung agenesis or pulmonary agenesis | A rare anomaly which may be associated with a number of other visceral systems abnormalities.43 |
| Myhre syndrome | An autosomal dominant condition characterized by facial dysmorphism, short stature, muscle pseudohypertrophy, joint stiffness, and thickened skin.44 |
| MURCS | Mullerian duct agenesis, renal agenesis, cervicothoracic somite dysplasia.45 |
| Pfeiffer syndrome | A mutation of the type 1 and type 2 fibroblastic growth hormone causing craniosynostosis with broad thumbs and toes.46 |
| VACTERL | Vertebral defects, anorectal malformations, cardiac defects, tracheoesophageal fistula with esophageal atresia, renal malformations, and limb defects.47 |
| Other | 22q11 micro duplications similar to DiGeorge syndrome,48 20p12 insertional deletion, 4q21 deletion |