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Related Experiment Video

Updated: May 22, 2026

Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay

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Published on: September 9, 2012

Thrombophilia gene mutations in oculoauriculovertebral spectrum.

E Tug¹, H I Atasoy, S Koybasi Sanal

¹Department of Medical Genetics, Gazi University, Faculty of Medicine, Ankara, Turkey. esratug@hotmail.com

Genetic Counseling (Geneva, Switzerland)

|May 23, 2012

Summary

Goldenhar syndrome, a spectrum of congenital anomalies, exhibits significant variability. This study highlights familial cases suggesting autosomal dominant inheritance and emphasizes thorough family examinations for early diagnosis and management.

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Last Updated: May 22, 2026

Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay

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Published on: September 9, 2012

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

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Published on: August 15, 2019

Area of Science:

Genetics and Developmental Biology
Craniofacial Anomalies
Ophthalmology

Background:

Oculoauriculovertebral spectrum, also known as Goldenhar syndrome, is a complex congenital disorder.
It is characterized by hemifacial microsomia, vertebral anomalies, and epibulbar dermoids.
While often sporadic, genetic heterogeneity with autosomal recessive and dominant inheritance patterns has been reported.

Observation:

Presents two familial cases with suspected autosomal dominant inheritance and one sporadic case of Goldenhar syndrome.
Familial cases involved a mother-infant pair and a father-infant pair, exhibiting varying degrees of hemifacial microsomia and associated anomalies.
The sporadic case presented with milder features, including preauricular tags and a limbal dermoid.

Findings:

The familial cases support autosomal dominant inheritance for certain presentations of Goldenhar syndrome.
Clinical manifestations display significant interfamilial and intrafamilial variability.
Mild variations within the Goldenhar spectrum were observed in the presented cases.

Implications:

Highlights the importance of detailed clinical evaluation for all family members when Goldenhar syndrome is suspected.
Emphasizes the need for genetic counseling and further research into the genetic underpinnings of this heterogeneous disorder.
Early identification of familial Goldenhar syndrome can lead to timely interventions and improved patient outcomes.