Filippi syndrome: two cases with ectodermal features, expanding the phenotype

Area of Science:

• Genetics
• Pediatrics
• Dermatology

Background:

• Filippi syndrome is a rare genetic disorder characterized by specific physical anomalies.
• Previous literature primarily focused on craniofacial and limb malformations.

Observation:

• Two unrelated children diagnosed with Filippi syndrome were studied.
• Both children exhibited typical facial dysmorphism, syndactyly, growth retardation, postnatal microcephaly, and developmental delay, especially in speech.
• Unusual hair and teeth were noted in both patients.

Findings:

• The study identified typical and less common features in two Filippi syndrome cases.
• The presence of dental and hair anomalies alongside neurological and ectodermal manifestations was observed.
• Literature review suggests these features might be under-recognized.

Implications:

• This case report expands the phenotypic spectrum of Filippi syndrome.
• Highlights the importance of considering neurological and ectodermal involvement in diagnosis.
• Suggests further research into the genetic and clinical aspects of Filippi syndrome is warranted.