First-pass extracted concept

bilateral anophthalmia

Candidate: concept label1 source documents3 linked claims

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Evidence Snippets

We present a case of a neonate with bilateral anophthalmia, ambiguous external genitalia, microcephaly, and renal ectopy, suggesting a syndromic etiology.

Evidence 1Source 1DOI PubMedprovenance

Supporting Sources

Source 1primary paper2025MEDDOI PubMed

1 evidence snippet 3 linked claims Claim 1 Claim 2 Claim 3

Linked Claims

Claim 1case presentationsupports2025Source 1DOI PubMed

The reported neonate had bilateral anophthalmia with ambiguous external genitalia, microcephaly, and renal ectopy, suggesting a syndromic etiology.

Claim 2clinical outcomesupports2025Source 1DOI PubMed

Despite multidisciplinary care, the patient died from complications including refractory respiratory distress and seizures.

Claim 3epidemiologysupports2025Source 1DOI PubMed

Anophthalmia is a rare congenital defect with an incidence of about 1 in 10,000 to 20,000 live births.