biostudies-literatureUnknown98(1)Liu YRATIONALE:X-linked dominant chondrodysplasia punctata type 2 (CDPX2) is a condition involving facial, skin, and skeletal dysplasia as a result of a mutation in emopamil binding protein (EBP). It usually presents with mild symptoms in female patients but is fatal in male patients. PATIENT CONCERNS:A fetus was diagnosed with asymmetrical short limbs and a narrow and small thorax by prenatal ultrasound examination at 24+5 weeks gestation. The pregnancy was terminated at 27 weeks of gestation; gross examination, postnatal X-ray and, whole exome analysis were performed to clarify the diagnosis. DIAGNOSIS:A provisional diagnosis of fatal skeletal dysplasia was given and the definite diagnosis of CDPX2 was based on postnatal X-ray and genetic testing of the aborted fetus. INTERVENTION:The pregnancy was terminated at 27 weeks' gestation after a fetal ultrasound indicated a severe abnormal phenotype. OUTCOMES:Whole exome analysis of aborted tissue confirmed EBP mutation in this case. Unlike most case reports, this female patient presented a severe phenotype that was considered to be related to X-chromosome inactivation. LESSONS:Chondrodysplasia punctata (CDP) should be considered if prenatal ultrasound shows high punctuate echoes at the metaphysis of long bones and asymmetrical short lower limbs. Postnatal X-ray and measurement of sterol levels in the amniotic fluid may aid in the diagnosis of CDP, but the condition can be confirmed with genetic testing of a blood sample or aborted tissue after delivery.Medicinee13850https://www.ebi.ac.uk/biostudies/studies/S-EPMC6344186biostudies-literatureX-linked dominant chondrodysplasia punctata with severe phenotype in a female fetus: A case report.PMC6344186Liu YYang YXu BWu QWang LShan DfalseX-linked dominant chondrodysplasia punctata with severe phenotype in a female fetus: A case report.RATIONALE:X-linked dominant chondrodysplasia punctata type 2 (CDPX2) is a condition involving facial, skin, and skeletal dysplasia as a result of a mutation in emopamil binding protein (EBP). It usually presents with mild symptoms in female patients but is fatal in male patients. PATIENT CONCERNS:A fetus was diagnosed with asymmetrical short limbs and a narrow and small thorax by prenatal ultrasound examination at 24+5 weeks gestation. The pregnancy was terminated at 27 weeks of gestation; gross examination, postnatal X-ray and, whole exome analysis were performed to clarify the diagnosis. DIAGNOSIS:A provisional diagnosis of fatal skeletal dysplasia was given and the definite diagnosis of CDPX2 was based on postnatal X-ray and genetic testing of the aborted fetus. INTERVENTION:The pregnancy was terminated at 27 weeks' gestation after a fetal ultrasound indicated a severe abnormal phenotype. OUTCOMES:Whole exome analysis of aborted tissue confirmed EBP mutation in this case. Unlike most case reports, this female patient presented a severe phenotype that was considered to be related to X-chromosome inactivation. LESSONS:Chondrodysplasia punctata (CDP) should be considered if prenatal ultrasound shows high punctuate echoes at the metaphysis of long bones and asymmetrical short lower limbs. Postnatal X-ray and measurement of sterol levels in the amniotic fluid may aid in the diagnosis of CDP, but the condition can be confirmed with genetic testing of a blood sample or aborted tissue after delivery.2019-01-01T00:00:00Z2019 Jan2020-11-19T14:40:57Z2019-03-26T22:50:23ZS-EPMC63441863060840210.1097/MD.0000000000013850