Prenatal diagnosis of skeletal dysplasia: a bioethical dilemma

Silva, Jéssica; Hillhouse, Melodie; Sabre, Alexander; Williams, Belinda; Yancy, Jana; Bogojevic, Andrej; Gaither, Kecia

doi:10.15406/ipcb.2019.05.00182

IPCB

2019

DOI: 10.15406/ipcb.2019.05.00182

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Prenatal diagnosis of skeletal dysplasia: a bioethical dilemma

Jéssica Silva¹,

Melodie Hillhouse²,

Alexander Sabre³

et al.

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2021

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Revisiting Skeletal Dysplasias in the Newborn

Langston¹,

Krakow²,

Chu³

2021

NeoReviews

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With over 400 reported disorders, the skeletal dysplasias represent a myriad of molecularly-based skeletal abnormalities. Arising from errors in skeletal development, the clinical spectrum of disease evolves through an affected individual’s life. The naming and grouping of these disorders are ever-changing, but the fundamentals of diagnosis remain the same and are accomplished through a combination of prenatal ultrasonography and postnatal physical examination, radiography, and genetic analysis. Although some disorders are lethal in the perinatal and neonatal periods, other disorders allow survival into infancy, childhood, and even adulthood with relatively normal lives. The foundation of management for an affected individual is multidisciplinary care. Medical advances have offered new insights into reducing common morbidities through pharmacologic means. This review summarizes the normal skeletal development and discusses the 3 most common skeletal dysplasias that can affect the newborn.

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Revisiting Skeletal Dysplasias in the Newborn

Langston¹,

Krakow²,

Chu³

2021

NeoReviews

View full text Add to dashboard Cite

show abstract

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Prenatal diagnosis of skeletal dysplasia: a bioethical dilemma

Cited by 1 publication

References 0 publications

Revisiting Skeletal Dysplasias in the Newborn

Revisiting Skeletal Dysplasias in the Newborn

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