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. 2022;22(1):119-120.
doi: 10.24911/SJP.106-1594635995.

Craniofrontonasal dysplasia

Affiliations

Craniofrontonasal dysplasia

Nisha Toteja et al. Sudan J Paediatr. 2022.
No abstract available

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Conflict of interest statement

The authors declare that there is no conflict of interest regarding the publication of this article. Figure 1.Features included. (A) longitudinal ridging of the nails (arrow). (B) syndactyly of toes (arrow). (C) abnormally shaped head with brachycephaly, broad forehead, wiry hair, telecanthus, and bifid nose (arrow). (D) Thoracic deformities, pectus excavatum, asymmetrical, hypoplastic chest and low-lying nipples (arrow). (E) Chest X-ray depicting Sprengel deformity, dysplastic clavicles and scapulae.

Figures

Figure 1.
Figure 1.
Features included. (A) longitudinal ridging of the nails (arrow). (B) syndactyly of toes (arrow). (C) abnormally shaped head with brachycephaly, broad forehead, wiry hair, telecanthus, and bifid nose (arrow). (D) Thoracic deformities, pectus excavatum, asymmetrical, hypoplastic chest and low-lying nipples (arrow). (E) Chest X-ray depicting Sprengel deformity, dysplastic clavicles and scapulae.

References

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    1. Howaldt A, Nampoothiri S, Yesodharan D, Udayakumaran S, Subash P, Kornak U. Four novel mutations in EFNB1 in Indian patients with craniofrontonasal syndrome. J Hum Genet. 2019 Sep;64(9):867–73. https://doi.org/10.1038/s10038-019-0638-9. - PubMed
    1. Zafeiriou DI, Pavlidou EL, Vargìami E. Diverse clinical and genetic aspects of craniofrontonasal syndrome. Pediatr Neurol. 2011;44(2):83–7. https://doi.org/10.1016/j.pediatrneurol.2010.10.012. - PubMed
    1. Goyal M, Pradhan G, Wieland I, Kapoor S. Craniofrontonasal syndrome: atrial septal defect with a novel EFNB1 gene mutation. Cleft Palate Craniofac J. 2015;52(2):234–6. https://doi.org/10.1597/13-354. - PubMed

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