Hypoplasia of Depressor Angularis Oris in a Male Neonate Associated with Cephalohematoma

Parfianowicz, Dominic; Uchendu, Uchendu

doi:10.7759/cureus.7213

Cited by 1 publication

(1 citation statement)

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“…ACF are preferably caused by the hypoplasia of the DAOM and less commonly the DLIM. Trauma caused injury to the peripheral branches of the facial nerve may also result in this deformity in rare cases [ 15 ].…”

Section: Discussionmentioning

confidence: 99%

Terminal 10q26.12 deletion is associated with neonatal asymmetric crying facies syndrome: a case report and literature review

Sun

Guo

et al. 2021

Mol Cytogenet

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Background The terminal 10q26 deletion syndrome is a clinically heterogeneous disorder without identified genotype–phenotype correlations. We reported a case of congenital asymmetric crying facies (ACF) syndrome with 10q26.12qter deletion and discussed their genotype–phenotype correlations and the potentially contributing genes involving the etiology of ACF. Methods and results We reported a case of neonatal 10q26.12qter deletion and summarized the genotype–phenotype correlations and contributing genes of 10q26.12qter deletion from DECIPHER database and published studies. Meanwhile, we analyzed the potential pathogenic genes contributing to 10q26 deletion syndrome. The female preterm infant harboring 10q26.12qter deletion showed symptoms of abnormal craniofacial appearance with rare congenital asymmetric crying facies, developmental retardation, congenital heart disease, and pulmonary artery hypertension. The deleted region was 13.28 Mb in size as detected by G-banding and array comparative genome hybridization, containing 62 Online Mendelian Inheritance in Man (OMIM) catalog genes. We summarized data from 17 other patients with 10q26.12qter deletion, 11 from the DECIPHER database and 6 from published studies. Patients with monoallelic WDR11 and FGFR2 deletions located in 10q26.12q26.2 were predisposed to craniofacial dysmorphisms, growth retardation, intellectual disability and cardiac diseases. Conclusion ACF is a facial dysmorphism frequently accompanied by other systemic deformities. It is a genetic abnormality that may associate with terminal 10q26.12 deletion. Early cardiac, audiologic, cranial examinations and genetic detection are needed to guide early diagnosis and treatment strategy.

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Section: Discussionmentioning

confidence: 99%