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Greenberg dysplasia: first reported case with additional non-skeletal malformations and without consanguinity
1Institute of Pathology, Leipzig University, Leipzig, Germany. horn1@medizin.uni-leipzig.de
Prenatal Diagnosis
|December 13, 2000
Summary
Greenberg dysplasia, a rare fetal disorder, presents with hydrops and skeletal issues. This case highlights additional malformations, aiding in antenatal diagnosis of this severe condition.
Area of Science:
- Medical Genetics
- Developmental Biology
- Prenatal Diagnosis
Background:
- Greenberg dysplasia is a rare genetic disorder characterized by fetal hydrops, irregular calcification, and skeletal dysplasia.
- Previous reports have described associations between fetal hydrops and specific skeletal abnormalities.
Observation:
- A German couple without consanguinity presented a fetus (karyotype 46,XY) with previously unreported malformations.
- Sonographic findings included tetraphokomelia, severe generalized hydrops, pulmonary hypoplasia, and hepatosplenomegaly.
Findings:
- The fetus exhibited omphalocele, intestinal malrotation, abnormal fingernails and toes, and hypolobated lungs, in addition to hydrops and skeletal dysplasia.
- This represents the first documented case of Greenberg dysplasia with this constellation of additional congenital anomalies.
Implications:
- Greenberg dysplasia should be considered in the differential diagnosis of severe fetal hydrops with phocomelia identified on antenatal ultrasound.
- Recognition of these additional malformations can improve diagnostic accuracy and genetic counseling for affected families.
- Further research is needed to understand the full spectrum and genetic underpinnings of Greenberg dysplasia.