Vertebral anomalies in Larsen's syndrome

Abstract

The case of two sisters with Larsen's syndrome is presented. In addition to typical features of the syndrome, "multiple coronal cleft vertebrae" of the lumbar vertebral bodies were seen in both sibs. The extremities were conspicuously short.

Ossification of the vertebral column in human foetuses: histological and computed tomography studies

“…Sagittal and coronal bands of uncalcified tissue occur in newborns, most frequently in lumbar region of the vertebral column, and usually disappear through the 1 st and 2 nd year postnatally. Coronal vertebral clefts may appear in congenital malformations of skeletal system [42], such as Desbuquois dysplasia [10], atelosteogenesis [18], chondrodysplasia punctata [12,41], dyssegmental dysplasia [13], Kniest dysplasia [19], short rib polydactyly syndrome, Larsen's syndrome [8,40], humero-spinal dysostosis [7], dysplastic cortical hyperostosis (Kozłowski-Tsuruta syndrome) [23] or in patients with deletions 22q11 [22]. In these cases multiple anomalies are observed including craniofacial abnormalities, shortening of long bones, anomalies of vertebrae (hemivertebrae, butterfly vertebrae, hypoplastic vertebrae), supernumerary ribs, polydactyly and congenital disorders of internal organs (pulmonary hypoplasia, hepatomegaly, congenital heart diseases).…”

Anaesthesia Experience in A Larsen Syndrome: Case Report

“…İskelet sisteminin diğer anomalileri ise büyük eklem çıkıkları, el ve ayak anomalileri, servikal hipoplazi ve vertebral segmentasyon defeklerini içerir. 7 Resesif formda daha belirgin olmakla birlikte Larsen sendromunda solunum sistemini ilgilendiren problemlerle karşılaşılabilir. Genel anlamda kollajen fibrillerinde gelişimsel eksiklik ya da yetersizliğin yol açtığı kıkırdak problemlerinden bahsedilebilir.…”

Value of 3-Dimensional Sonography for Prenatal Diagnosis of Vertebral Formation Failure

“…It has a higher incidence in patients with an imperforate anus, myelodysplasia, and chondrodystrophia calcificans 18 . Larsen syndrome is often complicated by multiple coronal cleft vertebrae 19 . This disease has been reported to be associated with several types of osteodysplasia 20 …”