TY - CHAP M1 - Book, Section TI - Achondroplasia A1 - Bianchi, Diana W. A1 - Crombleholme, Timothy M. A1 - D'Alton, Mary E. A1 - Malone, Fergal D. PY - 2015 T2 - Fetology: Diagnosis and Management of the Fetal Patient, 2e AB - Key PointsMost common form of short-limbed dwarfism.Incidence is 1 in 26,000 livebirths.Most consistent sonographic finding is shortening of long bones between 21 and 27 weeks. Additional findings include macrocrania, frontal bossing, trident-shaped hand.Differential diagnosis includes diastrophic dysplasia, achondrogenesis, Ellis–van Creveld syndrome, hypochondroplasia.Condition is due to mutations in fibroblast growth factor receptor 3 (FGFR3) gene, which is a negative regulator of chondrocyte proliferation. Mutations activate the receptor and cause gain of function.Pregnant women affected by achondroplasia need baseline pulmonary function tests and cesarean section delivery.Prenatal diagnosis can be performed by sonography or by DNA analysis.Major pediatric complications include short stature, foramen magnum compression, hydrocephalus, spinal stenosis, restrictive pulmonary disease, hypotonia, and recurrent ear infections. IQ is normal.Inherited as an autosomal dominant condition, but 80% of cases are new mutations that always derive from the father and are associated with advanced paternal age. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - obgyn.mhmedical.com/content.aspx?aid=1106399882 ER -