RT Journal Article
SR Electronic
T1 Revisiting Skeletal Dysplasias in the Newborn
JF NeoReviews
JO NeoReviews
FD American Academy of Pediatrics
SP e216
OP e229
DO 10.1542/neo.22-4-e216
VO 22
IS 4
A1 Langston, Seth J.
A1 Krakow, Deborah
A1 Chu, Alison
YR 2021
UL http://neoreviews.aappublications.org/content/22/4/e216.abstract
AB Abbreviations:CNP: C-type natriuretic peptideFGF: fibroblast growth factorFGFR3: fibroblast growth factor receptor 3FL/AC: femur length to abdominal circumferenceMRI: magnetic resonance imagingOI: osteogenesis imperfectaSD: standard deviationTD: thanatophoric dysplasiaU/L: upper segment to lower segmentWES: whole exome sequencingWith 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.