@article {798,
	title = {Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome.},
	journal = {Am J Med Genet A},
	volume = {182},
	year = {2020},
	month = {2020 12},
	pages = {2919-2925},
	abstract = {<p>Congenital diaphragmatic hernias (CDH) confer substantial morbidity and mortality. Genetic defects, including chromosomal anomalies, copy number variants, and sequence variants are identified in ~30\% of patients with CDH. A genetic etiology is not yet found in 70\% of patients, however there is a growing number of genetic syndromes and single gene disorders associated with CDH. While there have been two reported individuals with X-linked Opitz G/BBB syndrome with MID1 mutations who have CDH as an associated feature, CDH appears to be a much more prominent feature of a SPECC1L-related autosomal dominant Opitz G/BBB syndrome. Features unique to autosomal dominant Opitz G/BBB syndrome include branchial fistulae, omphalocele, and a bicornuate uterus. Here we present one new individual and five previously reported individuals with CDH found to have SPECC1L mutations. These cases provide strong evidence that SPECC1L is a bona fide CDH gene. We conclude that a SPECC1L-related Opitz G/BBB syndrome should be considered in any patient with CDH who has additional features of hypertelorism, a prominent forehead, a broad nasal bridge, anteverted nares, cleft lip/palate, branchial fistulae, omphalocele, and/or bicornuate uterus.</p>},
	issn = {1552-4833},
	doi = {10.1002/ajmg.a.61878},
	author = {Wild, K Taylor and Gordon, Tia and Bhoj, Elizabeth J and Du, Haowei and Jhangiani, Shalini N and Posey, Jennifer E and Lupski, James R and Scott, Daryl A and Zackai, Elaine H}
}
