Solitary maxillary central incisor and congenital nasal pyriform aperture stenosis

Lo, Fu‐Sung; Lee, Y.-J.; Lin, Shuan‐Pei; Shen, Ein‐Yiao; Huang, Jon Kway; Lee, K.-S.

doi:10.1007/s004310050763

Cited by 65 publications

(56 citation statements)

References 28 publications

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“…The most frequent was SMMCI, which occurred in all but one group 1 patient. Although previously less frequently observed, craniofacial and brain findings are primarily consistent with those of previous reports (3,4,12). The relatively high incidence of olfactory bulbs agenesis in the present study was also found to occur most frequently in patients with HP axis abnormalities.…”

Section: Discussionsupporting

confidence: 92%

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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: Discussionsupporting

confidence: 92%

“…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.…”

mentioning

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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“…Although the aetiology of CNPAS remains unknown, there are however important associations between this condition and other midline craniofacial defects and congenital anomalies [4,5,12]. Only 2 patients in our cohort had isolated CNPAS (10%), which is lower than the study by Guilmin-Crepon et al [4], who screened a cohort of 40 patients with CNPAS and reported its occurrence in isolation in 22%.…”

Section: Discussioncontrasting

confidence: 53%

“…CNPAS can occur in isolation or in association with other midline defects, including holoprosencephaly, of which solitary median maxillary central incisor (SMMCI) is the least severe form [2,3]. Studies have described pituitary abnormalities in up to 20-40% of cases of CNPAS [4,5], which has important implications for a potentially pre-operative patient, given the importance of an intact hypothalamic-pituitary axis (HPA) in this situation. Hui et al [6] reported a neonate with CNPAS and recurrent hypoglycaemic seizures who had a difficult postoperative period with severe electrolyte disturbance and who subsequently died of a cardiac arrest.…”

Section: Introductionmentioning

confidence: 99%

Early Identification of Pituitary Dysfunction in Congenital Nasal Pyriform Aperture Stenosis: Recommendations Based on Experience in a Single Centre

Chen¹,

McDevitt²,

Clement

et al. 2015

Horm Res Paediatr

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Background: Congenital nasal pyriform aperture stenosis (CNPAS) is an increasingly recognised cause of upper airway obstruction associated with midline abnormalities. Studies have described pituitary dysfunction in 40% of patients. We aimed to develop guidelines for: (a) the early identification of pituitary insufficiency to minimise surgical risk and (b) to stratify patients for follow-up. Methods: Retrospective case note review of patients with CNPAS between 2000 and 2014 in a tertiary paediatric unit. Results: 20 patients (12 female:8 male) were analysed; 16 were diagnosed during the neonatal period while 4 were diagnosed later. There was no consistent approach in the evaluation of the pituitary axis at diagnosis. Pituitary dysfunction was identified in 3 (15%) patients, 2 of whom were found during evaluation of short stature in mid-late childhood. Hypoglycaemia and conjugated hyperbilirubinaemia, but not the degree of stenosis, were highly predictive of pituitary dysfunction (p < 0.05). Available height standard deviation score (SDS) data at 1 year of 70% of our patients identified both of the late-diagnosed growth hormone-deficient patients, with SDS of -2.6 and -3.6, respectively. Conclusion: All CNPAS patients should have MRI of the brain and baseline endocrine investigations at diagnosis. Growth monitoring for at least 1 year is recommended as low, or falling, height SDS at 1 year is a good predictor of pituitary dysfunction.

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“…[6] Lo et al reported 40 cases on SMMCI and found that 69% had short stature, 48% had growth hormone deficiency/ hypopituitarism, 23% had pituitary absence/hypoplasia, and 17% had del[18p] or r [18]. [7] Parentin and Perissutti reported a 4-year-old male child with SMMCI, growth hormone deficiency, Duane retraction syndrome in the right eye and a duplicated thumb phalynx on the right hand. [8] The child in the present case report showed a duplicated thumb phalynx in the left hand.…”

Section: Discussionmentioning

confidence: 99%

Single upper central incisor syndrome: Report of a rare case

Adimoulame¹,

Tonetto²

2017

IJMDCR

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Solitary median maxillary central incisor (SMMCI) syndrome is considered as a microform of holoprosencephaly (HPE) spectrum. It is a unique developmental abnormality affecting midline structures of the body. Systemic abnormalities involve major systems of the body such as cardiovascular, gastrointestinal, renal, endocrine, genital, and skeletal systems. Abnormal features involving eyes, ears, nose, mouth, and skin are also present. SMMCI patients belong to the HPE spectrum, and hence are at risk of having children with a more severe form of HPE. Very often SMMCI patients may first be seen by a pedodontist or an orthodontist and it is important that the dentist performs a complete examination to rule out systemic abnormalities and involve a multidisciplinary team to manage the patient. This article reports about a 5-yearold male child who reported with dental abscess in whom SMMCI was an incidental finding. Further investigations revealed the association of SMMCI with anomalies such as chronic respiratory obstruction, short stature, abnormal clinical and radiographic craniofacial morphology, duplicated left thumb phalynx, and absent left testis.

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Solitary maxillary central incisor and congenital nasal pyriform aperture stenosis

Abstract: Solitary maxillary central incisor and congenital nasal pyriform aperture stenosis can be a diagnostic clue to pituitary hypofunction, CNS, ophthalmological and cytogenic anomalies.

Cited by 65 publications

References 28 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

Early Identification of Pituitary Dysfunction in Congenital Nasal Pyriform Aperture Stenosis: Recommendations Based on Experience in a Single Centre

Single upper central incisor syndrome: Report of a rare case

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