Arhinia

Mathur, N. N.; Dubey, Nand Kishore; Kumar, Sandeep; Bothra, Rajendra; Chadha, Anila

doi:10.1016/j.ijporl.2004.07.016

Cited by 17 publications

(13 citation statements)

References 5 publications

(7 reference statements)

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“…It is an extremely rare condition with only 30 cases reported in literature so far. [12] It poses a challenge for pediatric, craniofacial, and plastic surgeons. It is classified as type I congenital nasal abnormality according to Losee's classification.…”

Section: Discussionmentioning

confidence: 99%

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Congenital arhinia: A rare case

Goyal

Agrawal

Raina

et al. 2008

J Indian Assoc Pediatr Surg

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Section: Discussionmentioning

confidence: 99%

“…Canalization of nasal passage or tracheostomy may be required depending on severity of neonatal respiratory distress. [127]…”

Section: Discussionmentioning

confidence: 99%

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Congenital arhinia: A rare case

Goyal

Agrawal

Raina

et al. 2008

J Indian Assoc Pediatr Surg

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“…Arhinia, or congenital absence of the nose, is an extremely rare condition with no known cause . Failure to develop nasal placodes between the third and tenth weeks of intrauterine life can lead to congenital absence of the nose . Most arhinia patients have limited survival due to fetal respiratory failure during feeding and sleeping.…”

Section: Introductionmentioning

confidence: 99%

Nasal Reconstruction Using a Customized Three‐Dimensional–Printed Stent for Congenital Arhinia: Three‐Year Follow‐up

Jung

Kim

et al. 2018

The Laryngoscope

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A male Mongolian child with a complete congenital absence of both nose and nasal passage had a poor survival prognosis due to respiratory distress. To enable his survival, a new nose capable of conferring respiratory function was constructed. Following reconstructive surgery, an absence of mucoepithelium in the nasal passage can lead to rhinostenosis. To avoid this complication, a custom‐made nasal silicone stent was created using three‐dimensional (3D) printing technology in conjunction with the patient's computed tomography data. The stent was implanted for 2 months to maintain the shape and size of the nasal passage. At 2 months after stent implantation, the mucoepithelium tissue in the passage had successfully regenerated with no immune reaction. Three years after stent removal, respiratory function, nasal passage structure, and external nose shape were maintained without additional medical care. These results indicate the successful nasal reconstruction in an arhinia patient using a customized, 3D‐printed nasal stent. Laryngoscope, 129:582–585, 2019

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“…Congenital arhinia is often associated with microphthalmia, choanal atresia, and/or cleft palate [Graham and Lee, 2006]. To the best of our knowledge, only 36 cases of arhinia have been reported [Ruprecht and Majewski, 1978;Kaminker et al, 1985;Cohen and Goitein, 1986;Sakai et al, 1989;Galetti et al, 1994;Onizuka et al, 1995;Thiele et al, 1996;Choi et al, 1998;Cusick et al, 2000;Olsen et al, 2001;McGlone, 2003;Hou, 2004;Jules et al, 2004;Mathur et al, 2005;Shino et al, 2005;Graham and Lee, 2006]. Most cases were sporadic, but two familial cases were also reported [Ruprecht and Majewski, 1978;Thiele et al, 1996].…”

Section: Introductionmentioning

confidence: 99%

Congenital arhinia: Molecular‐genetic analysis of five patients

Sato¹,

Shimokawa²,

Harada³

et al. 2007

American J of Med Genetics Pt A

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Congenital arhinia, complete absence of the nose, is an extremely rare anomaly with unknown cause. To our knowledge, a total of 36 cases have been reported, but there has been no molecular-genetic study on this anomaly. We encountered a sporadic case of congenital arhinia associated with a de novo chromosomal translocation, t(3;12)(q13.2;p11.2). This led us to analyze the patient by BAC-based FISH for translocation breakpoints and whole-genome array CGH for other possible deletions/duplications in the genome. We found in this patient an approximately 19 Mb deletion spanning from 3q11.2 to 3q13.31 but no disruption of any gene(s) at the other breakpoint, 12p11.2. As the deleted segment at 3q was a strong candidate region containing the putative arhinia gene, we also performed the array CGH in four other arhinia patients with normal karyotypes, as well as mutation analysis of two genes, COL8A1 and CPOX, selected among hundreds of genes located to the deleted region, because they are expressed during early stages of human craniofacial development. However, in the four patients, there were no copy number aberrations in the region examined or no mutations in the two genes. Although our study failed to identify the putative arhinia gene, the data may become a clue to unravel the underlying mechanism of arhinia.

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Arhinia

Cited by 17 publications

References 5 publications

Congenital arhinia: A rare case

Congenital arhinia: A rare case

Nasal Reconstruction Using a Customized Three‐Dimensional–Printed Stent for Congenital Arhinia: Three‐Year Follow‐up

Congenital arhinia: Molecular‐genetic analysis of five patients

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