GGCX‐related congenital combined vitamin K‐dependent clotting factors deficiency‐1: Description of a fetus with chondrodysplasia punctata

Congenital combined vitamin K‐dependent clotting factors deficiency (VKCFD) is a rare autosomal recessive disease resulting in hemorrhagic symptoms usually associated with developmental disorders and bone abnormalities. Pathogenic variants in two genes encoding enzymes of the vitamin K cycle, GGCX a...

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Vydáno v:	American journal of medical genetics. Part A Ročník 188; číslo 1; s. 314 - 318
Hlavní autoři:	Mathonnet, Alix, Cunat, Séverine, Allias, Fabienne, Caillot, Sandrine, Thonnon, Cyrielle, Till, Marianne, Attié‐Bitach, Tania, Touraine, Renaud, Meunier, Sandrine, Cartellier, Charline, Rossi, Massimiliano, Attia, Jocelyne, Putoux, Audrey
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	Hoboken, USA John Wiley & Sons, Inc 01.01.2022 Wiley Subscription Services, Inc Wiley
Témata:	Blood Coagulation Factors Bone growth brain hemorrhage Carbon-Carbon Ligases - genetics chondrodysplasia punctata Chondrodysplasia Punctata - diagnosis Chondrodysplasia Punctata - genetics Chondrodystrophy Clotting congenital combined vitamin K‐dependent clotting factors deficiency Developmental disabilities Epiphysis Etiology Female Fetus Fetuses Genetics GGCX Hemorrhage Humans Life Sciences Male Neurodevelopmental disorders Phenotypes Pregnancy Vitamin K Vitamin K 1 Vitamin K Epoxide Reductases - genetics congenital combined vitamin K-dependent clotting factors deficiency GGCX brain hemorrhage chondrodysplasia punctata brain hemorrhage chondrodysplasia punctata congenital combined vitamin K-dependent clotting factors deficiency GGCX
ISSN:	1552-4825, 1552-4833, 1552-4833
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Shrnutí:	Congenital combined vitamin K‐dependent clotting factors deficiency (VKCFD) is a rare autosomal recessive disease resulting in hemorrhagic symptoms usually associated with developmental disorders and bone abnormalities. Pathogenic variants in two genes encoding enzymes of the vitamin K cycle, GGCX and VKORC1, can lead to this disorder. We present the case of a male fetus with a brachytelephalangic chondrodysplasia punctata (CDP), absence of nasal bone, growth restriction, and bilateral ventriculomegaly at 18 weeks of gestation. Pathological examination showed a Binder phenotype, hypoplastic distal phalanges, stippled epiphyses, and brain abnormalities suggestive of a brain hemorrhage. Two GGCX pathogenic variants inherited respectively from the mother and the father were identified. To our knowledge, this is the first prenatal description of VKCFD. Even if it remains a rare etiology, which is mostly described in children or adult patients, VKCFD should be considered in fetuses with CDP.
Bibliografie:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 ObjectType-Case Study-2 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	1552-4825 1552-4833 1552-4833
DOI:	10.1002/ajmg.a.62503