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Facio-auriculo-vertebral sequence in association with DiGeorge sequence, Rokitansky sequence, and Dandy-Walker
Komala Pillay1, Louise S Matthews, Helen C Wainwright
1Division of Anatomical Pathology, Department of Pathology, University of Cape Town Medical School/Groote Schuur Hospital, Anzio Road, Observatory, 7925 Cape Town, South Africa. komala@chempath.uct.ac.za
Summary
This case report details a rare fetal autopsy finding of the facio-auriculo-vertebral sequence combined with DiGeorge, Rokitansky, and Dandy-Walker sequences. It highlights the extreme variability and complex etiology of these congenital conditions.
Area of Science:
- Medical Genetics
- Developmental Biology
- Pathology
Background:
- The facio-auriculo-vertebral sequence (FAVS) exhibits significant variability and diverse etiologies.
- Clinical case reports are common, but fetal autopsy findings offer unique insights into early developmental processes.
Observation:
- A 29-week macerated female fetus presented with characteristic FAVS features: right facial hypoplasia, microtia, and macrostomia.
- Internal examination revealed DiGeorge sequence (hypoplastic thymus, truncus arteriosus, VSD, parathyroid hypoplasia), Rokitansky sequence (absent uterus/vagina), and Dandy-Walker malformation.
- Renal abnormalities included pelvi-ureteric junction obstruction and cystic dysplasia.
Findings:
- This report documents the sixth known association of FAVS with Rokitansky sequence.
- It is the first reported case linking FAVS with Dandy-Walker malformation.
- The constellation of anomalies underscores the complex interplay of genetic and developmental factors in congenital malformations.
Implications:
- This case expands the known spectrum of anomalies associated with FAVS.
- Understanding these complex associations is crucial for genetic counseling and prenatal diagnosis.
- Further research into the shared genetic pathways underlying these sequences is warranted.