Congenital Nasal Pyriform Aperture Stenosis: Isolated Abnormality vs Developmental Field Defect

Arlis, Harry; Ward, Robert F.

doi:10.1001/archotol.1992.01880090105027

Cited by 100 publications

(63 citation statements)

References 6 publications

(3 reference statements)

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“…CNPAS occurs as an isolated condition or in association with other midline defects (3-7,9 -14). Solitary median maxillary central incisor (SMMCI) (3)(4)(5)(6)(12)(13)(14) and/or pituitary deficiencies (3,7,10,12,15) have been reported. The clinical symptoms of pituitary dysfunction are not always obvious in early childhood and can be potentially severe.…”

Section: Introductionmentioning

confidence: 99%

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High Proportion of Pituitary Abnormalities and Other Congenital Defects in Children with Congenital Nasal Pyriform Aperture Stenosis

et al. 2006

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ABSTRACT:We aimed to determine the occurrence of pituitary dysfunction and additional malformations in patients with congenital nasal pyriform aperture stenosis (CNPAS) and to predict which patients are at risk of pituitary dysfunction. Among the 40 studied patients, hypothalamo-pituitary (HP) axis abnormalities were found in 16 patients (40%), with endocrine dysfunction (n ϭ 9) and/or abnormal HP MRI findings (n ϭ 15). A normal HP axis on MRI was highly predictive of normal endocrine function. Of the 40 patients, 31 had additional abnormalities in the cranio-facial area (n ϭ 26), the brain (n ϭ 12), the vertebrae (n ϭ 5), the limbs (n ϭ 4), the heart (n ϭ 7) and the kidney (n ϭ 3). Six patients had syndromic associations: VACTERL (n ϭ 4), CHARGE (n ϭ 1) and RHYNS (n ϭ 1) syndromes. Craniofacial and brain malformations were more common in patients with HP axis abnormalities than in patients with normal HP axis. Familial history of midline defects and/or consanguinity were found in 30% of patients.In conclusion, HP axis abnormalities are frequent in patients with CNPAS and justify MRI of the brain early in life and clinical evaluation to screen for patients with pituitary insufficiency. CNPAS may be a genetically heterogeneous condition with a large phenotypic variability that shares common etiological mechanisms with the various forms of the holoprosencephaly phenotype. C ongenital nasal pyriform aperture stenosis (CNPAS) is a rare condition that causes airway obstruction in newborn children, which was first described in 1989 (1). It is caused by an overgrowth of the nasal process of the maxillar, reducing the anterior part of the nasal cavity. It can be diagnosed by physical examination and computed tomography scan. Surgical intervention early in life is usually needed (2-4). CNPAS must be distinguished to choanal atresia, which causes a reduction of the posterior part of the nasal cavity (1,3).There is limited clinical data concerning this syndrome and the disorder is considered as a mild form of holoprosencephaly (5-9). In patients with CNPAS, familial history of holoprosencephaly, cleft palate and ocular coloboma and/or consanguinity have occasionally been reported. An autosomal recessive inheritance of the disorder has been suspected (3,8,10,11). CNPAS occurs as an isolated condition or in association with other midline defects (3-7,9 -14). Solitary median maxillary central incisor (SMMCI) (3)(4)(5)(6)(12)(13)(14) and/or pituitary deficiencies (3,7,10,12,15) have been reported. The clinical symptoms of pituitary dysfunction are not always obvious in early childhood and can be potentially severe. Without early diagnosis and appropriate hormonal treatment, morbidity and mortality is high (3,10,11,16). Therefore, the study of additional congenital abnormalities is important for the management and prognosis of the patients. A systematic analysis of the whole phenotypic spectrum associated with CNPAS has not been carried out in previous studies. Therefore, we aimed to investigate the occurrence of pituitary abno...

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Section: Introductionmentioning

confidence: 99%

“…There is limited clinical data concerning this syndrome and the disorder is considered as a mild form of holoprosencephaly (5)(6)(7)(8)(9). In patients with CNPAS, familial history of holoprosencephaly, cleft palate and ocular coloboma and/or consanguinity have occasionally been reported.…”

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confidence: 99%

High Proportion of Pituitary Abnormalities and Other Congenital Defects in Children with Congenital Nasal Pyriform Aperture Stenosis

et al. 2006

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“…The least severe form of holoprosencephaly is single central maxillary incisor (SCMI). Arlis and Ward reported four out of six patients with CNPAS presented with SCMI (Arlis & Ward 1992). Neither holoprosencephaly nor single central maxillary incisor is a common feature of Trisomy 8 Mosaicsm.…”

Section: Discussionmentioning

confidence: 98%

“…Axial CT scan of the nose and paranasal sinus can assess the extent of the obstruction. Confirmation of diagnosis is made when the width of the whole pyriform aperture is less than 8mm and each pyriform aperture is less than 3mm (Arlis & Ward 1992). Treatment for nasal pyriform aperture in general is either medical or surgical, depending on the severity of the symptoms.…”

Section: Discussionmentioning

confidence: 99%

Congenital Nasal Pyriform Aperture Stenosis as a Rare Manifestation of Trisome 8 Mosaicsm: A Case Report

Baki¹

2016

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“…Mild cases of CSPA, after diagnosis, can be treated more conservatively, with humidification and topical nasal decongestants 1,8,11 . Severe cases, such as the one presented, require surgical approach [1][2][3][4][5][6][7][8]11 . Surgical repair of CSPA comprises resection of inferior margin of the bone in anterior nasal aperture, which can be made by two accesses.…”

Section: Discussionmentioning

confidence: 99%

Estenose congênita da abertura piriforme

Tagliarini

Nakajima

Castilho

2005

Rev. Bras. Otorrinolaringol.

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A estenose congênita da abertura piriforme é uma rara causa de obstrução nasal que pode ocorrer no recém-nascido. É provocada pelo crescimento excessivo do processo nasal medial da maxila causando um estreitamento do terço anterior da fossa nasal. Inicialmente foi relatada uma deformidade isolada, posteriormente a estenose congênita da abertura piriforme foi considerada como apresentação de forma menor da holoprosencefalia. Neste artigo relatamos um caso de recém-nascido do sexo masculino que apresentava desde o parto dispnéia, cianose e episódios de apnéia. O paciente foi submetido a cirurgia com alargamento da abertura piriforme por acesso sublabial. No seguimento apresentou boa evolução durante o acompanhamento. O relato desta deformidade mostra sua importância como causa de obstrução nasal congênita e diagnóstico diferencial de atresia coanal. A estenose congênita da abertura piriforme pode ser reparada adequadamente, quando necessário, através de procedimento cirúrgico.

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Congenital Nasal Pyriform Aperture Stenosis: Isolated Abnormality vs Developmental Field Defect

Cited by 100 publications

References 6 publications

High Proportion of Pituitary Abnormalities and Other Congenital Defects in Children with Congenital Nasal Pyriform Aperture Stenosis

High Proportion of Pituitary Abnormalities and Other Congenital Defects in Children with Congenital Nasal Pyriform Aperture Stenosis

Congenital Nasal Pyriform Aperture Stenosis as a Rare Manifestation of Trisome 8 Mosaicsm: A Case Report

Estenose congênita da abertura piriforme

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