Congenital arhinia: A rare case

Zhang, Maomao; Yang-hong, Hu; He, Wenwu; Kui-kui, Hu

doi:10.12659/ajcr.890072

Cited by 15 publications

(2 citation statements)

References 17 publications

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“…Bosma arhinia microphthalmia syndrome (BAMS) was first described in 1981 [ 1 ]. It is a rare disease characterized by a combination of congenital arhinia (absence of the nose), microphthalmia, colobomas, and hypogonadism.…”

Section: Introductionmentioning

confidence: 99%

Bosma Arhinia Microphthalmia Syndrome (BAMS): First Report from Vietnam

Cong¹,

Minh²,

Hoàng³

et al. 2023

Cureus

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Bosma arhinia microphthalmia syndrome (BAMS) is a rare condition, with about 100 cases identified worldwide. It is characterized by nasal and ophthalmic abnormalities, as well as disturbances in puberty and sexual development. The cardinal sign is arhinia, though some cases have partial aplasia of the external nose. In addition, several reports have revealed abnormal brain structure, including changes to the olfactory bulbs. This case describes a 29-year-old female who has suffered from BAMS since birth. On presentation, she was noted to have congenital arhinia, bilateral microphthalmia, vision loss, mouth-breathing, an unclear speaking voice, a high arched or cleft palate, and a hypoplastic maxilla. Her paranasal sinuses were ossified and underdeveloped. This syndrome occurs rarely, both within Vietnam and worldwide. It is characterized by four major features: arrhinia, complete absence of the paranasal sinuses, eye defects, and absent sexual maturation. This case report describes the presentation of the disorder to improve otolaryngologists’ understanding of BAMS. Criteria for diagnosis consist of arhinia, midface hypoplasia (with a hypoplastic maxilla), hypogonadotropic hypogonadism, and normal intellectual abilities. Additional important findings are microphthalmia with or without coloboma, anosmia, maxillary hypoplasia, a high-arched palate, and absence of paranasal sinuses and olfactory bulbs.

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Section: Introductionmentioning

confidence: 99%

Bosma Arhinia Microphthalmia Syndrome (BAMS): First Report from Vietnam

Cong¹,

Minh²,

Hoàng³

et al. 2023

Cureus

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show abstract

“…Arhinia is presumed to result from a specific defect in the nasal placodes or surrounding neural crest-derived tissues during embryonic development. 1 It is variably associated with absent paranasal sinuses, hypertelorism, microphthalmia, colobomas, nasolacrimal duct abnormalities, midface hypoplasia, high-arched palate, absent olfactory bulbs and defects of the reproductive axis in males. 2 Arhinia is evident at birth.…”

Section: Introductionmentioning

confidence: 99%

Congenital complete arhinia with alobar holoprosencephaly

Boakye-Yiadom

Nguah

Mahama

et al. 2022

gmj

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Congenital arhinia is a life-threatening, rare craniofacial disorder, which, when not identified and managed early can cause severe respiratory distress at birth due to upper airway obstruction. Since neonates are obligate nasal breathers, simultaneous sucking and breathing requirement in neonates with arhinia leads to respiratory distress. Inspiration and expiration through the oral passage alone may result in thoracic retraction, thereby further exacerbating respiratory distress.We report a rare case of congenital complete arhinia with alobar holoprosencephaly in a 9-month-old. With no family history of congenital malformations, maternal risk factors and uneventful pregnancy, a term female neonate was de-livered vaginally without immediate post-delivery respiratory distress. Examination revealed microcephaly, absent fontanelles, fused cranial sutures and bilateral microphthalmia. Breathing was spontaneous, with no immediate signs of respiratory distress. An additional diagnosis of alobar holoprosencephaly was made after a head computed tomog-raphy (CT) scan was done. Management included the initial stabilisation phase of supplemental oxygen and an oro-gastric tube for feeding. The baby did not require both tracheostomy and gastrostomy tubes, as she was not in severe respiratory distress requiring a tracheostomy tube nor having difficulties feeding with the orogastric tube.

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Isolated congenital arhinia: Fetal magnetic resonance imaging and pediatric computed tomography 3D reconstructions, long‐term follow‐up and review of the literature

Castro,

Matos,

Ribeiro

et al. 2024

J of Clinical Ultrasound

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The complete absence of the nose, arhinia, is a malformation most often associated with severe brain malformations. However, arhinia can be isolated, but only a few cases have been described. The prenatal diagnosis of isolated arhinia is also rarely described, with only three cases describing their follow‐up, mostly in the first months of life. In this case report, we describe the prenatal diagnosis of isolated arhinia and the long‐term follow‐up of 8 years with normal psychological and cognitive development. We also demonstrated the fetal magnetic resonance imaging and pediatric computed tomography three‐dimensional reconstructions of the face.

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Congenital arhinia: A rare case

Cited by 15 publications

References 17 publications

Bosma Arhinia Microphthalmia Syndrome (BAMS): First Report from Vietnam

Bosma Arhinia Microphthalmia Syndrome (BAMS): First Report from Vietnam

Congenital complete arhinia with alobar holoprosencephaly

Isolated congenital arhinia: Fetal magnetic resonance imaging and pediatric computed tomography 3D reconstructions, long‐term follow‐up and review of the literature

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