Müllerian aplasia with hypoplastic thumbs: Two case reports

Area of Science:

• Reproductive Medicine
• Developmental Biology
• Genetics

Background:

• Müllerian aplasia, a congenital absence of the uterus and vagina, is often linked with other congenital anomalies.
• Skeletal anomalies, particularly spinal deformities, are frequently observed in individuals with Müllerian aplasia.
• However, thumb hypoplasia has not been previously reported in association with this condition.

Observation:

• Two unrelated female patients presented with a rare combination of Müllerian aplasia, unilateral thumb hypoplasia, and skeletal spine deformities.
• These cases highlight a previously undocumented constellation of congenital anomalies.
• Review of existing literature did not reveal similar combined presentations.

Findings:

• The reported cases establish a novel association between Müllerian aplasia, unilateral thumb hypoplasia, and spinal abnormalities.
• This finding suggests a potential shared developmental pathway or a new syndromic association.
• The absence of thumb hypoplasia in known syndromes like hand-foot-uterus syndrome underscores the uniqueness of this presentation.

Implications:

• These findings may necessitate a re-evaluation of diagnostic criteria and genetic counseling for patients with Müllerian aplasia.
• Further research into the genetic and developmental underpinnings of this combined anomaly is warranted.
• Understanding this new constellation could lead to improved diagnostic tools and targeted interventions for related conditions.