A newborn with bilateral coronal craniosynostosis, hypoplastic thumbs, imperforate anus, and prenatal growth restriction was evaluated and given the clinical diagnosis of Baller-Gerold syndrome (BGS). While confirmatory testing of RECQL4 was pending, the infant developed unexplained hypocalcemia, prompting testing for a 22q11.2 deletion. Subsequently, the infant was found to have a 22q11.2 deletion, and was negative for an RECQL4 mutation. We therefore conclude that 22q11.2 deletion syndrome can present with findings resembling the BGS phenotype.
Keywords: 22q11.2 deletion syndrome; Baller-Gerold syndrome; FISH for 22q11.2; craniosynostosis; hypoplastic thumb; imperforate anus; radial ray defect.
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