RT Book, Section A1 Bianchi, Diana W. A1 Crombleholme, Timothy M. A1 D'Alton, Mary E. A1 Malone, Fergal D. SR Print(0) ID 1106400048 T1 Campomelic Dysplasia T2 Fetology: Diagnosis and Management of the Fetal Patient, 2e YR 2015 FD 2015 PB McGraw-Hill Education PP New York, NY SN 978-0-07-144201-5 LK obgyn.mhmedical.com/content.aspx?aid=1106400048 RD 2024/03/29 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.