Lethal and life-limiting skeletal dysplasias: Selected prenatal issues

Skeletal Dysplasias

This is a good radiological text covering occult traumatic lesions of the cervical, lower thoracic, and lumbar spine, especially for residents in radiology, neurosurgery, neurology, and orthopedics. The book reviews a topic which has not been widely covered in the literature. The major emphasis of this expanded second edition is the cervical spine, comprising seven of its ten chapters. A new ch...

Dermatoglyphs in skeletal dysplasias.

Finger and palm print patterns (dermatoglyphs) are formed in very early pregnancy, at about the same time the limbs are developing, and their formation probably depends upon the surface contours of the palms and soles during morphogenesis. Dermatoglyphs are useful in skeletal dysplasias for the detection and study of syndactyly and symphalangism, for dating the onset and the dysplasias, for dem...

Genetic heterogeneity in skeletal dysplasias.

Certain skeletal dysplasias represent excellent examples of genetic heterogeneity. Clinical recognition of their individual characteristics is a fundamental prerequisite for an understanding of their pathogenetic mechanisms and for the identification of their basic molecular defects.

Comprehensive Skeletal Dysplasias and Disorders Panel Plus

Prenatal diagnosis of skeletal dysplasias: contribution of three-dimensional computed tomography.

OBJECTIVE To describe the contribution of 3-dimensional computed tomography (3D-CT) in the prenatal diagnosis of skeletal dysplasias (SD) in a cohort of patients with inconclusive diagnosis by ultrasound (US). METHODS Between May 2007 and February 2010, six pregnant women with suspected fetal SD on US examination but with no specific diagnosis were studied with 3D-CT. The images were evaluate...