X-linked dominant chondrodysplasia punctata with severe phenotype in a female fetus: A case report.

Abstract

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.

• Authors: Yan Liu, Li Wang, Bin Xu, Yike Yang, Dan Shan, Qingqing Wu
• Journal: Medicine (Medicine (Baltimore)) Vol. 98 Issue 1 Pg. e13850 (Jan 2019) ISSN: 1536-5964 [Electronic] United States
• PMID: 30608402 (Publication Type: Case Reports, Journal Article)

Topics

• Chondrodysplasia Punctata (diagnosis, genetics)
• Female
• Humans
• Phenotype
• Pregnancy
• Ultrasonography, Prenatal