Van Maldergem syndrome-1 in a patient with central precocious puberty: A case report.

Rationale: Van Maldergem syndrome-1 (VMS-1; OMIM #601390) is a multisystem genetic disease characterized by intellectual disability, craniofacial deformities, skeletal anomalies, and/or other variable malformations. Few cases have been reported to date, posing challenges to the diagnosis and management of this condition.

Patient Concerns: A 7-year-old female Chinese patient presented with a series of developmental defects, including precocious puberty, mild intellectual disability, unusual craniofacial features, mild shortening of the fourth metacarpal bone, and clumsy movements with poor coordination.

-associated lethal fetal syndrome: a case report of a Chinese family.

Research on fetal loss related to germline mutations in single genes remains limited. Disruption of has recently been established in association with perinatal deaths characterized by hydranencephaly, renal dysplasia, oligohydramnios, and characteristic dysmorphisms. We herein present a Chinese family with recurrent fetal losses due to compound heterozygous nonsense variants.