Severe X-linked chondrodysplasia punctata in nine new female fetuses

Prenatal Diagnosis
Mathilde LefebvreChristel Thauvin-Robinet

Abstract

Conradi-Hünermann-Happle [X-linked dominant chondrodysplasia punctata 2 (CDPX2)] syndrome is a rare X-linked dominant skeletal dysplasia usually lethal in men while affected women show wide clinical heterogeneity. Different EBP mutations have been reported. Severe female cases have rarely been reported, with only six antenatal presentations. To better characterize the phenotype in female fetuses, we included nine antenatally diagnosed cases of women with EBP mutations. All cases were de novo except for two fetuses with an affected mother and one case of germinal mosaicism. The mean age at diagnosis was 22 weeks of gestation. The ultrasound features mainly included bone abnormalities: shortening (8/9 cases) and bowing of the long bones (5/9), punctuate epiphysis (7/9) and an irregular aspect of the spine (5/9). Postnatal X-rays and examination showed ichthyosis (8/9) and epiphyseal stippling (9/9), with frequent asymmetric short and bowed long bones. The X-inactivation pattern of the familial case revealed skewed X-inactivation in the mildly symptomatic mother and random X-inactivation in the severe fetal case. Differently affected skin samples of the same fetus revealed different patterns of X-inactivation. Prenatal detection o...Continue Reading

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Citations

Nov 18, 2016·Journal of Inherited Metabolic Disease·Laurent GuibaudChristine Vianey-Saban
May 11, 2017·The Journal of Biological Chemistry·Juliana MarulandaMonzur Murshed
Feb 27, 2018·Oral Diseases·J Marulanda, M Murshed
Jul 10, 2016·Journal of Inherited Metabolic Disease·Christine Vianey-SabanRoseline Froissart
Sep 8, 2017·Clinical Case Reports·Nadirah DamsehPeter Kannu
Aug 24, 2018·European Journal of Human Genetics : EJHG·Mathilde PacaultFabienne Dufernez
Jun 20, 2020·Fetal and Pediatric Pathology·Sihem Darouich, Aida Masmoudi

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