A family with dominant oculoauriculovertebral spectrum

Area of Science:

• Medical Genetics
• Developmental Biology
• Clinical Dysmorphology

Background:

• The oculoauriculovertebral spectrum encompasses several congenital anomalies, including hemifacial microsomia and Goldenhar syndrome.
• Proposed by Gorlin et al. in 1990, the term 'oculoauriculovertebral spectrum' lacks universally agreed diagnostic criteria, leading to phenotypic overlap with other genetic and teratologic syndromes.
• While often sporadic, familial instances of the oculoauriculovertebral spectrum have been documented in first-degree relatives.

Observation:

• This report details a mother and her two children affected by the oculoauriculovertebral spectrum, demonstrating variable expressivity.
• The mother presented with isolated auricular anomalies requiring reconstructive surgery.
• Her first child exhibited a bilateral cleft lip and palate, eyelid coloboma, facial asymmetry, posteriorly angulated ears, and bilateral vesicoureteral reflux.

Findings:

• Fetal ultrasonography during the second pregnancy revealed a cleft lip and palate, club feet, left ear hypoplasia, left maxillary and mandibular hypoplasia, and left microphthalmia.
• Postnatal examination of the fetus confirmed ultrasonographic findings and identified vertebral anomalies.
• This familial observation underscores the variable expressivity of the oculoauriculovertebral anomaly, ranging from isolated microtia to major malformations and less severe anomalies.

Implications:

• The variable expressivity observed in this family suggests that the oculoauriculovertebral spectrum can manifest differently across affected individuals, even within the same lineage.
• The findings support the potential for autosomal or X-linked dominant inheritance patterns in the oculoauriculovertebral spectrum.
• Further research into the genetic underpinnings and inheritance patterns of the oculoauriculovertebral spectrum is warranted to improve diagnosis and genetic counseling.