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Sex and dysplasia

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Appropriate genetic counseling should follow confirmation of the diagnosis by a clinician experienced in skeletal dysplasias. Since the diagnosis of skeletal dyplasias is sex and dysplasia for the most part by radiological evaluation, an attempt should be made to deliver the fetus intact if the patient chooses to have elective termination.

Cesarean section has been recommended for fetuses with achondroplasia or osteogenesis imperfecta to reduce the theoretical risk of possible CNS complications from vaginal delivery. However, patients should be informed that retrospective studies have failed to show a significant improvement in the outcomes of fetuses with skeletal dyplasias delivered by cesarean section . Micromelia: Shortening of all segment of the extremities. Campomelia: Bowing of the long bones. Scoliosis: Laterally curved or bent spine.

All extremities to detect predominantly shortened segments. Report of hypoplasia, absence of bones, degree of mineralization, bowing, angulation, fractures or thickening secondary to callus formation. The shape of the thorax and number and appearance of the ribs. Hands and feet for polydactyly, missing digits, and postural deformities including clubfoot and hypoplastic or hitchhiker thumbs. Movement usually is decreased in fetuses with bone dysplasias, especially lethal types.

Associated anomalies including maternal hydramnios, fetal hydrops, congenital heart defects and cystic renal malformation. Fetal radiography may be considered to obtain more information about bone shape and mineralization. Group of bone dysplasias with common characteristic isĀ  stippling of the epiphyses. Cubert R, Cheng EY, Mack S, Pepin MG, Byers PH. Osteogenesis imperfecta: mode of delivery and neonatal outcome. Yoshimura S, Masuzaki H, Gotoh H, Fukuda H, Ishimaru T. Ultrasonographic prediction of lethal pulmonary hypoplasia: comparison of eight different ultrasonographic parameters.

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