Atelosteogenesis type II: Sonographic and radiological correlation

Abstract

Atelosteogenesis type II is a lethal chondrodysplasia characterized by severe micromelia, spinal abnormalities, talipes equinovarus, and abducted thumbs and toes. We present a case diagnosed at 21 weeks of gestation in which antenatal sonographic and post-mortem radiological findings were correlated. The patient had a recurrence of this disorder in a subsequent pregnancy which was terminated at 15 weeks, supporting previous reports of an autosomal recessive inheritance pattern. The feasibility of diagnosing the following morphological features by prenatal ultrasonography is demonstrated: coronal clefts of the vertebral bodies, metaphyseal and epiphyseal abnormalities, spinal deviations such as cervical kyphosis and a horizontal sacrum, additional ossification centres in the pelvis, and preaxial deviation of the thumbs and toes. The differential diagnosis of this disorder from other skeletal dysplasias with similar features is discussed.

Horizontal Sacrum as an Indicator of a Tethered Spinal Cord

“…The horizontal sacrum, which is an exaggeration of the LSA, has been identified by our group in cases of tethered spinal cord and has been documented in other diseases such as hypochondroplasia, atelosteogenesis type II, Weismann-Netter Stuhl syndrome and spondylolisthesis [13, 14, 15, 16, 17]. However, the inclination of the sacrum has seldom been measured [18].…”

The horizontal sacrum as an indicator of the tethered spinal cord in spina bifida aperta and occulta

“…11,13 This entity is also found in other disease processes such as hypochondroplasia, atelosteogenesis Type II, Weismann-Netter-Stuhl syndrome, and spondylolisthesis. [4][5][6]10 In the present study we review the findings obtained in these two groups of patients, one with an open and one with a closed form of spinal dysraphism.…”