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Related Experiment Videos

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

S Sharif1, D Donnai

  • 1Academic Unit of Medical Genetics and Regional Genetic Service, St Mary's Hospital, Manchester M13 0JH, UK.

Clinical Dysmorphology
|September 15, 2004
PubMed
Summary

Two children with Filippi syndrome presented with typical symptoms and unusual hair and teeth. Neurological and ectodermal issues may be under-recognized features of this rare genetic disorder.

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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.

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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.