Müllerian Aplasia with Hypoplastic Thumbs: Two Case Reports

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Abstract
Two cases of Müllerian aplasia associated with unilateral hypoplasia of the thumbs and skeletal spine deformities in two unrelated females are reported, and the pertinent literature is reviewed. Müllerian aplasia is frequently associated with skeletal spine deformities, but has not been reported to be associated with hypoplasia of the thumbs. Several heritable syndromes, including the hand-foot-uterus syndrome, are characterized by uterovaginal and distal extremity malformations but are not associated with skeletal spine anomalies. The two cases reported here represent a previously unreported constellation of anomalies.