Prenatal and postnatal findings in cerebellofaciodental syndrome: a rare genetic disorder.

Introduction: Cerebellofaciodental syndrome (CFDS) (OMIM# 616202) is an autosomal recessive neurodevelopmental disorder with an incidence of one in 10 000 000. To date, only 15 cases have been reported in the literature. It is characterized by dysmorphic features, microcephaly, short stature, intellectual disability, and central nervous system anomalies.

Case report: Here, we describe a case presenting with short long bones, restricted limb movements, and growth restriction during the antenatal period. After birth, the infant exhibited facial dysmorphism, microcephaly, a bell-shaped thorax, short extremities, brachydactyly, clinodactyly, and a short penis. The clinical features were suggestive of skeletal dysplasia or BRF1-related syndromes.

Results: Whole exome sequencing identified a homozygous pathogenic missense variant, c.875C>G (p.Pro292Arg), in the BRF1 gene (NM_001519.4), confirming a diagnosis of CFDS.

Conclusion: This case highlights the phenotypic overlap between CFDS and Roberts syndrome, emphasizing the need for a better delineation of the disease's genotypic and phenotypic spectrum. It also underscores that growth failure can be evident before the onset of neurodevelopmental abnormalities and characteristic facial features.