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32 results
  • Congenital arrhinia: A case report and literature review. [Case Reports]
    Int J Pediatr Otorhinolaryngol. 2020 May 05; 135:110083.Abukhalaf SA, Zalloum JS, … Alzughayyar TZ
  • CONCLUSIONS: CA is largely idiopathic and not well understood. Although CA can be inherited and runs in families with incomplete penetrance, no causative genetic abnormalities had been found in most of the reported cases. CA frequently presents with upper airway obstruction and respiratory distress, recurrent lower and URTI, and feeding difficulties. CA is managed initially with tracheostomy and should be followed by a surgical correction at the appropriate age.CA may be sporadic, familial, or a part of a syndrome. CA carries a significant rate of morbidity and mortality and a tracheostomy should be inserted initially to alleviate the early CA complications and followed by surgical reconstruction when the patient reaches the age of preschool/school age. More studies are required to determine CA inheritance.
  • The arrhinias: Proboscis lateralis literature review and surgical update. [Review]
    J Craniomaxillofac Surg. 2019 Sep; 47(9):1410-1413.Galiè M, Clauser LC, … Bianchi AE
  • Proboscis lateralis (PL) is a rare malformation, reported for the first time in 1861 by Forster in his monograph on congenital malformations of the human body. The abnormal side of the nose is represented by a tube-like rudimentary nasal structure, attached at any point along the embryonic fusion line between the anterior maxilla and the frontonasal processes. As clefts of the lip (and alveolus) …
  • Congenital arhinia - First published case in Malaysia. [Case Reports]
    Med J Malaysia. 2017 10; 72(5):308-310.Ng RL, Rajapathy K, Ishak Z
  • Congenital arhinia is one of the rare craniofacial malformation that may cause severe respiratory distress at birth due to upper airway obstruction. Our patient, whose abnormalities were only detected after delivery in our centre, is the first reported case of congenital arhinia in Malaysia. Contrary to popular belief that neonates are obligate nasal breather, our patient adapted well to breathin…
  • Hypogonadotropic hypogonadism in a female patient with congenital arhinia. [Case Reports]
    J Pediatr Endocrinol Metab. 2017 Jan 01; 30(1):101-104.Hunter JD, Davis MA, Law JR
  • The association of anosmia and congenital hypogonadotropic hypogonadism (CHH) is well described; however, congenital arhinia is a malformation associated with CHH that occurs much more rarely. There have been three reports of male patients with hypogonadism and congenital arhinia in the literature to date. We present the first case of arhinia associated with CHH in a female patient. A 14 years an…
  • Nose underdevelopment - etiology, diagnosis and treatment. [Journal Article]
    Otolaryngol Pol. 2016 Apr 30; 70(2):13-8.Fijałkowska M, Antoszewski B
  • CONCLUSIONS: Nose underdevelopment is rare congenital anomaly and is characterized by variable clinical picture. Medical history and precise physical examination are fundamental in proper diagnosis. Disturbances in nose development can lead to serious functional consequences and require individual plan of treatment.
  • Nasal reconstruction of a patient with complete congenital arhinia: A clinical report. [Case Reports]
    J Prosthet Dent. 2016 Dec; 116(6):924-927.Fernandes N, van den Heever J, … Kluge H
  • Complete congenital arhinia is a rare embryonic disorder of unknown etiology. This is a clinical report of the prosthetic nasal rehabilitations done in the early childhood and adolescent stages of a patient with complete congenital arhinia. Additive manufacturing techniques for creating presurgical planning models to assist in the creation of new nasal passages are also described. These rare diso…
  • Bosma arrhinia microphthalmia syndrome in a Mexican patient with a molecular analysis of PAX6. [Case Reports]
    Clin Dysmorphol. 2016 Jan; 25(1):12-5.Becerra-Solano LE, Chacón L, … García-Ortiz JE
  • The association of anophthalmia, arrhinia, and hypogonadism constitutes the major clinical features for Bosma arrhinia microphthalmia syndrome. However, there is variability in the presentation of this disease; arrhinia is the most constant clinical feature, which is then combined with a spectrum of anophthalmia/microphthalmia and/or hypogonadism. This rare entity is not associated with any speci…
  • Prenatal diagnosis of total arhinia by MRI. [Case Reports]
    Jpn J Radiol. 2015 Oct; 33(10):672-4.Li X, Zhang L, Wang F
  • Congenital arhinia is the absence of an external nose, nasal cavities and olfactory apparatus, and extremely rare. It occurs during the early gestational stage and may be a result of maldevelopment of the paired nasal placodes embryologically. Total arhinia is often associated with other craniofacial abnormalities. Early detection may be helpful for the parents and physician. However, fewer than …
  • Synophthalmia in a Holstein cross calf. [Case Reports]
    Vet Res Forum. 2014 Fall; 5(4):333-5.Nourani H, Karimi I, Rajabi Vardanjani H
  • Synophthalmia is a form of cyclopia, in which some elements of two eyes are fused and form a single eye in the middle region of the forehead. The head of a Holstein female calf born from a 5-year-old cow was referred to Department of Pathology, School of Veterinary Medicine, Shahrekord University due to multiple congenital anomalies. The calf had been slaughtered immediately after birth due to se…
  • Diagnostic imaging features of congenital nose and nasal cavity lesions. [Review]
    Clin Neuroradiol. 2015 Mar; 25(1):3-11.Ginat DT, Robson CD
  • A wide variety of congenital nasal lesions can present to clinical attention due to airway obstruction, the presence of a mass, and/or cosmetic deformity, including pyriform aperture stenosis, choanal atresia, nasopharyngeal atresia, arrhinia, congenital germline fusion cysts, cephaloceles, neuroglial heterotopia, nasolacrimal duct mucoceles, hamartomas, supernumerary nostril, and bifid nose. Com…
  • Use of distraction osteogenesis in arrhinia. [Case Reports]
    J Craniofac Surg. 2014 May; 25(3):888-91.Prada JR, Mendoza MB
  • Nasal malformations such as hemiarrhinia and arrhinia have a very low incidence, although many treatment protocols have been described. In this article, we describe 2 surgical techniques to treat arrhinia depending on the age at the beginning of treatment. In our practice, we use Le Fort III osteotomy with distraction osteogenesis as a pillar of the reconstruction because it allows to improve ant…
  • Holoprosencephaly with multiple anomalies of the craniofacial bones-an autopsy report. [Journal Article]
    J Clin Diagn Res. 2013 Aug; 7(8):1722-4.Aruna E, Chakravarthy VK, … Rao DR
  • Holoprosencephaly (HPE), a disorder which results from a failure of cleavage or the incomplete differentiation of the forebrain structures at various levels or to various degrees, is related to hereditary factors, chromosomal anomalies, cytogenetic abnormalities, and environmental teratogenic factors. We are reporting a case of a multiparous woman who was G3,P3,L2, who delivered a full term foetu…
  • Congenital partial arhinia: a rare malformation of the nose coexisting with holoprosencephaly. [Case Reports]
    Turk J Pediatr. 2012 Jul-Aug; 54(4):440-3.Takcı S, Korkmaz A, … Yurdakök M
  • Complete or partial arhinia is a rare defect of embryogenesis characterized by congenital absence of the soft tissue of the nose and nasal structures. It is generally associated with other craniofacial or somatic anomalies, including midline defects such as cleft palate, highly arched palate, absence of paranasal sinuses, and palatal and ocular abnormalities. Less than 40 patients with arhinia ha…
  • Persistence of a monosomic cell line in a fetus with mosaic trisomy 8. [Case Reports]
    Am J Med Genet A. 2011 Nov; 155A(11):2791-4.Turchetti D, Pompilii E, … Seri M
  • We report on a fetus presenting with an increased nuchal translucency, in which chorionic villus sampling led to the diagnosis of mosaic trisomy 8. Ultrasound scan performed at 15(+6) weeks revealed bilateral cleft lip and palate, flat facial profile, and arrhinia. Pregnancy was terminated at 16(+6); postmortem examination showed additional findings including hypospadias, bilateral renal dysplasi…
  • Congenital arhinia: case report of a rare congenital anomaly. [Case Reports]
    Arch Iran Med. 2011 Sep; 14(5):355-6.Fakhraee SH, Nariman S, Taghipour R
  • Congenital absence of the nose or arhinia is a rare defect of embryogenesis often associated with other anomalies. Arhinia is a life-threatening condition that requires a highly skilled neonatal resuscitation team in the delivery room. The associated anomalies often have a significant effect on the immediate as well as long-term outcome of the neonate. This report presents a case of congenital ar…
  • The Arrhinias. [Journal Article]
    Scand J Plast Reconstr Surg Hand Surg. 2009; 43(4):177-96.Tessier P, Ciminello FS, Wolfe SA
  • The Arrhinias consist of three groups of malformations: the Total Arrhinias (T-AR), the Hemi-Arrhinias (H-AR, often called Hemi-Nasal Ageneses) and the Proboscis Lateralis (P.L.) This work deals with 51 cases of Arrhinias gathered within 35 years (8 T-AR, 25 H-AR, and 18 P.L): their anatomy, clinical signs, and some indications for treatment; but it does not extend to a discussion for their etiop…
  • Atypical cyclopia in a brown swiss cross calf: a case report. [Case Reports]
    Anat Histol Embryol. 2006 Jun; 35(3):152-4.Ozcan K, Gürbulak K, … Pancarci MS
  • In this report, an atypical form of cyclopia is described in a stillborn Brown Swiss cross male calf. The changes were confined to the head. The most significant malformation was the presence of a median orbita-like opening that did not contain an eyeball. Other defects included prosencephalic aplasia, brachygnathia superior and arrhinia. The possible cause of this congenital defect could not be …
  • [The rare malformation of nasal aplasia]. [Case Reports]
    Mund Kiefer Gesichtschir. 2006 Mar; 10(2):106-17.Cho CH, Shakibaei M, … Klein M
  • CONCLUSIONS: In cases of congenital arrhinia different degrees of respiratory distress, cyanotic episodes, and impaired food intake are described. Therefore after birth respiration and food intake need to be monitored to alleviate the situation through intubation or tracheotomy. The following conclusions could be made based on the literature overview. Little is known about the pathophysiology and a great variety of therapeutic interventions and reconstruction solutions with a wide spectrum of complications are described. Due to the numerous forms of complications, which need to be compared with the reconstructive results, indications for surgical reconstruction of the airway and plastic reconstruction of the nose during childhood must be defined very stringently.One method to achieve a satisfactory plastic result is with an osseointegrated prosthesis. This facial prosthesis can be inserted without complications and can guarantee an adequate result, whereas no impairment of maxillofacial development was noted.
  • Mosaic trisomy 9 and lobar holoprosencephaly. [Case Reports]
    Am J Med Genet. 2002 Aug 15; 111(3):295-300.Gérard-Blanluet M, Danan C, … Encha-Razavi F
  • The main features of trisomy 9 syndrome in mosaic and non-mosaic forms have been thoroughly described. Characteristic traits are low-set malformed ears, micrognathia, broad nose with bulbous tip, abnormal brain, congenital heart defects, abnormal hands and feet, genital abnormalities, and early death. We report a case of mosaic trisomy 9 with holoprosencephaly (HPE). The propositi was born at 37 …
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