Complete Nasal Agenesis with Bilateral Microphthalmia and Unilateral Duplication of the Thumb

Gs, LaTrenta; Hw, Choi; Rf, Ward; Hoffman, Lloyd A.; Ja, Neidich

doi:10.1097/00006534-199505000-00024

Cited by 11 publications

(6 citation statements)

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“…Surgical methods of treatment for arhinia include staged reconstruction or simultaneous reconstruction of the nasal passage and the external nose. We found that there are more reports of staged reconstruction than of simultaneous reconstruction [2,3,6,19]. There are 3 suggestions about nasal reconstruction timing:

Early reconstruction (neonatal);

Preschool or school-age;

Adolescence (after nasal and maxillofacial development perfectly).

…”

Section: Discussionmentioning

confidence: 99%

Congenital arhinia: A rare case

Zhang

Yang-hong

et al. 2014

Am J Case Rep

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Patient: Male, 4 monthsFinal Diagnosis: Congenital arhyniaSymptoms: Absence of the noseMedication: —Clinical Procedure: —Specialty: Pediatrics and Noenatology • GeneticsObjective:Congenital defectsBackground:Congenital nasal absence (arhinia) is an extremely rare malformation. Arhinia causes severe airway obstruction and poor feeding in the affected neonate. There is an association with other facial anomalies, especially defects of the eyes, ears, palate, and midline defects.Case Report:A full-term boy was born via an uncomplicated vaginal delivery. The mother was 40 years old and had a normal pregnancy. The mother had 4 previous uncomplicated pregnancies. There was no history of drug use during pregnancy.Conclusions:Congenital arhinia is a rare defect of embryogenesis, often associated with other anomalies that significantly influence the immediate and long-term outcomes of the neonate. It is a potentially life-threatening condition and requires the presence of a highly skilled neonatal resuscitation team at the time of delivery. Parental counseling is vital and a multidisciplinary team approach is required to optimize neonatal outcome.

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Early reconstruction (neonatal);

Preschool or school-age;

Adolescence (after nasal and maxillofacial development perfectly).

…”

Section: Discussionmentioning

confidence: 99%

Congenital arhinia: A rare case

Zhang

Yang-hong

et al. 2014

Am J Case Rep

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“…Table 1 reports additional physical features of the 43 cases surveyed in our literature review (Palmer and Thomson, 1967;Berger and Martin, 1969;Gifford et al, 1972;Lu ¨tolf, 1976;Ruprecht and Majewski, 1978;Das Gupta et al, 1979;Kaminker et al, 1985;Shubich and Sanchez, 1985;Cohen and KJ, 1986;Cole et al, 1989;Navarro-Vila et al, 1991;Mu ¨hlbauer et al, 1993;Weinberg et al, 1993;LaTrenta et al, 1995;Albernaz et al, 1996;Thiele et al, 1996;Meyer, 1997;Olsen et al, 2001;McGlone, 2003;Feledy et al, 2004;Hour, 2004;Mathur et al, 2005;Shino et al, 2005;Akkuzu et al, 2007;Sato et al, 2007;Goyal et al, 2008;Brusati et al, 2009;Cesaretti et al, 2011;Fakhraee et al, 2011;Takcı et al, 2012;Tryggestad et al, 2013;Ali, 2014;Courtney et al, 2014;Zhang et al, 2014;Li et al, 2015;Fernandes et al, 2016;Mondal and Prasad, 2016;Ng et al, 2017;Borghi et al, 2019;Jung et al, 2019;…”

Section: Discussionmentioning

confidence: 99%

Reconstruction of Congenital Arhinia With Stereolithographic Modeling: Case Correlate and Literature Review

Harrison

Anderson

Spiller

et al. 2021

The Cleft Palate-Craniofacial Journal

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Complete congenital arhinia is a rare defect of embryogenesis leading to the absence of the external nose and airway. We report our novel multistaged reconstructive approach and literature review. Nasal methyl methacrylate prosthesis was created from a stereolithographic model for use as a temporary prosthesis and tissue expander. Lefort 1 with cannulization was utilized for midface advancement and airway formation. External framework was reconstructed with bilateral conchal bowl cartilage and rib osteocartilagenous grafts. Patient was pleased with the aesthetics and had safe decannulation with the ability to breathe through the nose and airway.

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“…The patients had normal intelligence [2,3]. LaTrenta et al (1995) from the USA reported a patient with complete nasal agenesis with bilateral microphthalmia and unilateral duplication of the thumb [5].…”

Section: Discussionmentioning

confidence: 99%

Ruprecht Majewski-Bosma syndrome associated with atrial septal defect

Al-Mosawi¹

2019

IJCCR

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Background: Ruprecht Majewski-Bosma syndrome is an extremely rare dysmorphic syndrome results from severe hypoplasia of the nose and eyes occurring in association with palatal abnormalities.It is characterized by congenital complete nasal agenesis (Bilateral aplasia of the nose) , microphthalmia including clinical anophthalmia, hypertelorism and other eye defects, high arched palate, and other palatal defects. Materials and methods:A full term newborn female born to a consanguineous parents in their twenties with multiple congenital abnormalities was observed and studied at Children Teaching Hospital of Baghdad Medical City. The relevant literature was reviewed. Results: At birth the girl had the characteristic congenital abnormalities Ruprecht Majewski-Bosma syndrome of including complete nasal agenesis (Bilateral aplasia of the nose), bilateral microphthalmia, high arched palate, hypertelorism, and secondum atrial septal defect. Literature review confirmed the extreme rarity of the condition. Becerra-Solano et al ( 2016) reported the fifteenth case of the syndrome in the literature. The case of Mondal and Prasad was most probably the reported case number fifty one. Congenital heart defects have not been reported in association with this syndrome. Conclusion:The paper reported the fifty two patients with Ruprecht Majewski-Bosma syndrome which is the first case of the syndrome to be associated with congenital heart defect, atrial septal defect.

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Complete Nasal Agenesis with Bilateral Microphthalmia and Unilateral Duplication of the Thumb

Cited by 11 publications

References 0 publications

Congenital arhinia: A rare case

Congenital arhinia: A rare case

Reconstruction of Congenital Arhinia With Stereolithographic Modeling: Case Correlate and Literature Review

Ruprecht Majewski-Bosma syndrome associated with atrial septal defect

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