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Extended phenotypes in a boy and his mother with oto-palato-digital-syndrome type II

Ali Al Kaissi1, Raimund Kraschl2, Wilhelm Kaulfersch2

  • 1First Medical Department, Ludwig Boltzmann Institute of Osteology, at the Hanusch Hospital of WGKK and, AUVA Trauma Centre Meidling, Hanusch Hospital Vienna, Austria ; Paediatric Department, Orthopaedic Hospital of Speising Vienna, Austria.

Clinical Case Reports
|September 25, 2015
PubMed

Insights

Oto-palato-digital syndrome type II (OPD II) presents with unique skeletal anomalies. This study details additional features in a mother and son, expanding understanding of OPD II

Area of Science:

  • Genetics
  • Skeletal Dysplasias
  • Medical Imaging

Background:

  • Oto-palato-digital syndrome type II (OPD II) is a rare genetic disorder.
  • Understanding the full spectrum of OPD II phenotypes is crucial for diagnosis and management.

Observation:

  • Radiographic analysis of a mother and son revealed additional phenotypic manifestations of OPD II.
  • Specific skeletal findings included wormian bones, paranasal bossing, and complex foot anomalies.

Findings:

  • The mother exhibited bilateral fusion of tarsal bones (cuboid and lateral cuneiform) leading to metatarsus varus.
  • Dysplastic distal phalanges were observed in conjunction with these foot deformities.

Implications:

  • These findings contribute to the phenotypic characterization of oto-palato-digital syndrome type II.
  • Detailed radiographic descriptions enhance the understanding of genotypic-phenotypic correlations in skeletal dysplasias.

Keywords:
Extended phenotypeFLNA gene Mutationoto-palato-digital type IIskeletal changes

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