Related Experiment Videos
Oto-palato-digital syndrome with features of type I and II in brothers
1Institute of Medical Genetics, School of Medicine (Charité), Humboldt University, Berlin.
Insights
Oto-palato-digital syndrome (OPD) presents a spectrum of clinical features. This study details two sons with OPD, exhibiting a range of symptoms suggesting a continuous clinical spectrum or allelic heterogeneity.
Area of Science:
- Genetics
- Medical Genetics
- Skeletal Dysplasias
Background:
- Oto-palato-digital syndrome (OPD) is a rare genetic disorder.
- It is characterized by a constellation of craniofacial, skeletal, and limb abnormalities.
Observation:
- Two sons of a mother with minimal OPD signs presented with severe symptoms.
- The index patient displayed typical OPD type I features, bone bowing, and spinal abnormalities.
- Prenatal ultrasound revealed micrognathia, thumb/toe anomalies, and bowed tibiae in a male fetus.
Findings:
- Post-termination examination of the fetus met diagnostic criteria for both OPD type I and II.
- This suggests OPD type I and II may represent a continuous clinical spectrum.
- Alternatively, different alleles could contribute to the observed mixed phenotypes.
Implications:
- Understanding the clinical spectrum of OPD is crucial for accurate diagnosis.
- Further research into the genetic basis of OPD may reveal novel insights into skeletal development.
- This case highlights the importance of comprehensive genetic evaluation in suspected skeletal dysplasias.
Abstract:
We report on the oto-palato-digital syndrome (OPD) in two sons of a mother showing minimal signs of the condition. The index patient, a 10-year-old boy, presents typical symptoms of OPD type I together with bowing of the long bones and abnormalities of the thorax and spinal column. During the following pregnancy ultrasonographic studies of the male fetus in the 16th week of gestation revealed severe micrognathia, short and wide thumbs, and big toes, and bowed tibiae. After termination of the pregnancy further features were observed which fulfilled the diagnostic criteria of both OPD I and II. A possible explanation of these findings is that OPD type I and II and the features in the described cases are part of a continuous clinical spectrum of the same underlying mutation, or that several different alleles are involved in the OPD type I, type II, and mixed phenotypes.