TY - CHAP M1 - Book, Section TI - Campomelic Dysplasia 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 PointsDistinct skeletal dysplasia characterized by bowing of the long bones of the lower extremity, phenotypic sex reversal, flat face, micrognathia, cleft palate, and renal and cardiac abnormalities.Incidence is 0.05 to 1.6 per 10,000 livebirths.Sonographic findings include acute femoral angulation, a small bell-shaped chest, and marked micrognathia.Differential diagnosis includes osteogenesis imperfecta type II, diastrophic dysplasia, Larsen syndrome, pelvis–shoulder dysplasia, and acampomelic campomelic dysplasia.Fetal karyotype is indicated to screen for chromosome 17 rearrangements, which have a better prognosis and to determine chromosomal gender.72% of 46, XYfetuses have female genitalia.Delivery at a tertiary center is indicated.95% of affected individuals die either in the perinatal period or during the first year of life.Long-term survivors have short stature, recurrent apnea and respiratory infections, progressive kyphoscoliosis, and developmental delay.Condition is caused by mutations in SOX9, an essential transcription factor in chondrogenesis.Campomelic dysplasia is inherited as an autosomal dominant. Rare reports of parent-to-child transmission exist. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/10/03 UR - obgyn.mhmedical.com/content.aspx?aid=1106400048 ER -