Rare Combination of Congenital Microtia and Limb Malformations: Analysis of Etiology and Treatment.
Journal
The Journal of craniofacial surgery
ISSN: 1536-3732
Titre abrégé: J Craniofac Surg
Pays: United States
ID NLM: 9010410
Informations de publication
Date de publication:
28 Oct 2024
28 Oct 2024
Historique:
received:
09
08
2024
accepted:
27
08
2024
medline:
28
10
2024
pubmed:
28
10
2024
entrez:
28
10
2024
Statut:
aheadofprint
Résumé
Congenital microtia is the second most common congenital craniofacial deformity, and limb malformation is the most common birth defect. The combination of the 2 deformities is rare. In this study, the authors present 3 cases with a rare combination of congenital microtia and limb malformations and analyze the etiology and treatment of the malformations. There may be genetic homology between these two malformations, and they can be associated with abnormal ectodermal migration. Level IV-case study.
Identifiants
pubmed: 39466184
doi: 10.1097/SCS.0000000000010659
pii: 00001665-990000000-02091
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
Copyright © 2024 by Mutaz B. Habal, MD.
Déclaration de conflit d'intérêts
The authors report no conflicts of interest.
Références
Deng K, Dai L, Yi L, et al. Epidemiologic characteristics and time trend in the prevalence of anotia and microtia in China. Birth Defects Res A Clin Mol Teratol 2016;106:88–94
Daniela VL, Carrie LH, Anne VH, et al. Microtia: epidemiology and genetics. Am J Med Genet A 2011;158A:124–139
Gerlya A, Jan W, Sergey F, et al. Optimal surgical timing for ear reconstruction with autologous cartilage: analysis of the computed tomography scan characteristics of the ribs. J Plast Reconstr Aesthet Surg 2023;88:15–23
Mary Claire M, Colin DK, Jerry IH. Classifications in brief: the Wassel classification for radial polydactyly. Clin Orthop Relat Res 2016;475:1740–1746
Sandra K, Maryline M, Onkar J, et al. A multiple super-enhancer region establishes inter-TAD interactions and controls Hoxa function in cranial neural crest. Nat Commun 2023;14:3242
Luquetti DV, Heike CL, Hing AV, et al. Microtia: epidemiology and genetics. Am J Med Genet A 2012;158a:124–139
Parkash M, Qi Bao Q, Spencer B, et al. Sonic hedgehog, BMP4, and Hox genes in the development of anorectal malformations in Ethylenethiourea-exposed fetal rats. J Pediatr Surg 2006;41:2041–2045
Tamás J, Csaba M, Csilla S, et al. Mechanical loading stimulates chondrogenesis via the PKA/CREB-Sox9 and PP2A pathways in chicken micromass cultures. Cell Signal 2013;26:468–482
Elisa T, Vidhya J, Cord D, et al. Congenital aural atresia associated with agenesis of internal carotid artery in a girl with a FOXI3 deletion. Am J Med Genet A 2015:167A 537–44
Carson SA, Kallen AN. Diagnosis and management of infertility: a review. Jama 2021;326:65–76