Treacher Collins syndrome: Phenotypic variability in a family including an infant with arhinia and uveal colobomas

Hansen, Matthew C.; Lucarelli, Mark J.; Whiteman, David A.H.; Mulliken, John B.

doi:10.1002/(sici)1096-8628(19960102)61:1<71::aid-ajmg14>3.0.co;2-t

Cited by 35 publications

(5 citation statements)

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“…This was considered the best option for a home setting to relieve the child from respiratory distress at rest and while feeding. 10,12,14,15 Nutritional difficulties may be resolved via a feeding tube or gastrostomy. 14 The pathogenesis of congenital arhinia is defined inadequately.…”

Section: Discussionmentioning

confidence: 99%

A Clinical Report of the Complete Nasal Agenesis: Reconstruction of Congenital Arhinia and Review of the Literature

Boynuyogun

Tunçbi̇lek

2022

The Cleft Palate Craniofacial Journal

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Congenital absence of the nose or arhinia is an exceptionally rare craniofacial malformation, and the pathophysiology of the arhinia is still unknown. Most arhinia patients can have difficulties with breathing and feeding due to the absence of the nose, nasal cavities, and associated problems. A 38-day-old female patient was referred to our clinic with arhinia. Physical examination revealed the complete agenesis of nasal structures as the nasal bones and vestibulum nasi. The region of the absent nose was flat and firm at palpation. Congenital arhinia may occur with other associated malformations such as ocular, ear, palate, and gonadal. Therefore, it is recommended to evaluate computed tomography/magnetic resonance imaging in the postnatal period. Additionally, a radiological evaluation will help nasal reconstruction by documenting changes in nasal and maxillary anatomy over time. Due to the limited number of arhinia cases presented, the surgical management of this condition has not been standardized. We presented the pyramid-shaped cartilage grafts for the nasal framework and an expanded paramedian forehead flap for the skin coverage for reconstruction of arhinia.

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Section: Discussionmentioning

confidence: 99%

A Clinical Report of the Complete Nasal Agenesis: Reconstruction of Congenital Arhinia and Review of the Literature

Boynuyogun

Tunçbi̇lek

2022

The Cleft Palate Craniofacial Journal

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“…There is also a report involving an extreme presentation of Treacher-Collins syndrome. 5 The karyotype in congenital arhinia is generally normal; however, 3 cytogenetic abnormalities have been reported in association with this defect. There have been 2 documented cases of chromosome 9 aberrations (mosaic trisomy 96 and inversion chromosome 97) and an apparently balanced de novo reciprocal translocation between chromosomes 3 and 12 [t(3;12)(q13.2;p11.2)].…”

Section: Discussionmentioning

confidence: 99%

Second-Trimester Prenatal Diagnosis of Total Arhinia

Majewski

Donnenfeld

Kuhlman

et al. 2007

Journal of Ultrasound in Medicine

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rhinia is defined as the congenital absence of the nose. It is an extremely rare condition, which is usually associated with other craniofacial abnormalities. An extensive literature search revealed that the prenatal diagnosis of this anomaly has only been reported on 1 previous occasion at 29 weeks' gestation, and the diagnosis at birth has been reported only 29 times in the pediatric literature.1-29 To our knowledge, there has not been a previously reported case of congenital arhinia diagnosed during the second trimester. This report describes the 2-and 3-dimensional sonographic appearance of arhinia shown during second-trimester genetic sonography and reviews this exceedingly rare craniofacial defect. Early diagnosis of this defect allows the patient to consider all her options regarding pregnancy management. The detection of arhinia in the second trimester provides evidence that this rare disorder can be diagnosed through appropriate evaluation of craniofacial anatomy on a comprehensive second-trimester sonographic examination.Received August 28, 2006, Case ReportAn 18-year-old woman, gravida 1, para 0, was initially seen by her obstetrician at 8 weeks' gestation. Her medical history was notable for depression treated with escitalopram oxalate (Lexapro; Forest laboratories, St Louis, MO) at 20 mg daily. The medication was begun 3 months before conception. At this first obstetric visit, the patient was advised to taper her medication to 10 mg for 1 week, then to 5 mg for an additional week, and then to discontinue use of the medication. Subsequently, a firsttrimester sonographic examination and genetic consultation because of the medication use were performed at 9 weeks' gestation. The sonogram revealed a single, viable intrauterine pregnancy with fetal measurements appropriate for gestational age.

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“…Hensen et al [6] advocated tracheostomy for respiratory distress in cases of arhinia. But, most of the cases reported in literature were not tracheostomised.…”

Section: Discussionmentioning

confidence: 99%