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Article

A recessive variant in SIM2 in a child with complex craniofacial anomalies and global developmental delay.

European journal of medical genetics - 1 Apr 2022

Al-Kurbi Alya A, Da'as Sahar Isa, Aamer Waleed, Krishnamoorthy Navaneethakrishnan, Poggiolini Ilaria, Abdelrahman Doua, Elbashir Najwa, Al-Shabeeb Akil Ammira, Glass Graeme E, Fakhro Khalid A

Abstract excerpt

Rare deletions and duplications on the long arm of Chromosome 21 have previously been reported in many patients with craniofacial and developmental phenotypes. However, this Down Syndrome Critical Region (DSCR) contains multiple genes, making identifying a single causative gene difficult. Here, we report a case of a boy with bicoronal craniosynostosis, facial dysmorphism, developmental delay, and intellectual...

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PMID: 35182808
DOI: 10.1016/j.ejmg.2022.104455

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