Related Experiment Videos
Hemifacial microsomia and variants: pedigree data
Abstract:
Ear malformations occur per se or together with other congenital anomalies. Many syndromes with ear malformations have been described. We have studied propositi with hemifacial microsomia (HFM) or Goldenhar syndrome (GS), also called oculoauriculovertebral "dysplasia" (OAV). In addition to ear malformations some individuals may have a small and/or malformed mandible, epibulbar, or conjunctival lipodermoids and anomalies of the cervical spine. Other malformations may also be seen. At present, the cause of these disorders is unclear. Here we present pedigree data on 97 propositi, 44 of whom had a family history of the same or similar anomaly. First-degree relatives were most often affected (35/433, 8%). Of 176 sibs tabulated, 11 (6%) were considered affected. The pattern of occurrence in many families suggested multifactorial determination, although other interpretations are possible. The occurrence of differing anomalies within a family suggests that the disorders constitute a single entity. The most frequent anomaly was a mild ear malformation (preauricular node or tag). This suggests a broad phenotypic spectrum. These data are useful for purposes of genetic counseling.
Insights
This study on hemifacial microsomia (HFM) and Goldenhar syndrome (GS) found that mild ear malformations are common and often run in families, suggesting a shared genetic basis for these related conditions.
Area of Science:
- Genetics
- Developmental Biology
- Medical Genetics
Background:
- Ear malformations can occur independently or as part of broader congenital anomaly syndromes.
- Hemifacial microsomia (HFM) and Goldenhar syndrome (GS), also known as oculoauriculovertebral dysplasia (OAV), encompass a spectrum of craniofacial and vertebral anomalies.
- The etiology of HFM/GS/OAV remains largely unknown, with potential genetic and environmental factors.
Purpose of the Study:
- To investigate the inheritance patterns and familial occurrence of ear malformations in individuals with HFM or GS/OAV.
- To explore the phenotypic spectrum and potential shared etiology of HFM and GS/OAV.
- To provide data for genetic counseling regarding these conditions.
Main Methods:
- Pedigree analysis of 97 propositi with HFM or GS/OAV.
- Family history data collection, including affected relatives and specific anomalies.
- Calculation of recurrence risks and assessment of inheritance patterns.
Main Results:
- A significant proportion of propositi (44/97) had a family history of similar anomalies.
- First-degree relatives showed an 8% affection rate (35/433), and 6% of siblings (11/176) were affected.
- Mild ear malformations, such as preauricular tags or nodes, were the most frequent anomaly observed.
Conclusions:
- The familial occurrence and varied presentation suggest a multifactorial or complex genetic basis for HFM/GS/OAV.
- The wide range of anomalies within families supports the hypothesis that these disorders represent a single, albeit broad, clinical entity.
- Findings are crucial for accurate genetic counseling and understanding the genetic counseling implications of these craniofacial anomalies.