Prenatal diagnosis of cerebro‐oculo‐facio‐skeletal syndrome: Report of three fetuses and review of the literature

Autor: Tania Attié-Bitach, Sarah Baer, Jamel Chelly, Romain Favre, Ferechté Razavi, Pauline Le Van Quyen, Nadège Calmels, Suzanne Chartier, Vincent Laugel, Salima El Chehadeh, Cathy Obringer, Séverine Bacrot, Maryse Bonnière, Lucile Boutaud, Maria Cristina Antal
Rok vydání: 2020
Předmět:
Zdroj: American Journal of Medical Genetics Part A. 182:1236-1242
ISSN: 1552-4833
1552-4825
Popis: Cerebro-oculo-facio-skeletal syndrome (COFS) is a rare autosomal recessive neurodegenerative disease belonging to the family of DNA repair disorders, characterized by microcephaly, congenital cataracts, facial dysmorphism and arthrogryposis. Here, we describe the detailed morphological and microscopic phenotype of three fetuses from two families harboring ERCC5/XPG likely pathogenic variants, and review the five previously reported fetal cases. In addition to the classical features of COFS, the fetuses display thymus hyperplasia, splenomegaly and increased hematopoiesis. Microencephaly is present in the three fetuses with delayed development of the gyri, but normal microscopic anatomy at the supratentorial level. Microscopic anomalies reminiscent of pontocerebellar hypoplasia are present at the infratentorial level. In conclusion, COFS syndrome should be considered in fetuses when intrauterine growth retardation is associated with microcephaly, arthrogryposis and ocular anomalies. Further studies are needed to better understand XPG functions during human development.
Databáze: OpenAIRE
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