[Lethal skeletal dysplasias: delineation of a new distinct entity with spondylocostal dysostosis, multiple internal abnormalities and Dandy-Walker cyst].
A new lethal skeletal dysplasia is reported In addition to the micromelia this malformed fetus presented spondylocostal dysostosis and multiple internal anomalies including a Dandy-Walker cyst.
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000473:pathology*; D001842:Bone and Bones / Q000002:abnormalities; D003616:Dandy-Walker Syndrome / Q000150:complications* / Q000473:pathology; D005097:Exostoses, Multiple Hereditary / Q000150:complications* / Q000473:pathology; D005260:Female; D005315:Fetal Diseases / Q000473:pathology*; D006801:Humans; D006849:Hydrocephalus / Q000150:complications*; D011247:Pregnancy; D011263:Pregnancy Trimester, Third; D014463:Ultrasonography
Les dysplasies squelettiques léthales: délimitation d'une nouvelle entité distincte avec dysostose spondylocostale, anomalies multiples internes et kyste de Dandy-Walker.