Preauricular Fistulae, Congenital

Last update 01 Nov 2024

Basic Info

Synonyms

Congenital auricular fistula, Congenital preauricular fistula, EAR PITS

+ [21]

Introduction

A pit or dimple in front of the ear of a newborn is a common finding; rarely, such a dimple may get infected, which will be manifested with redness and swelling and will require medical attention.

Clinical Trials associated with Preauricular Fistulae, Congenital

CTRI/2024/02/062295

/ Not yet recruitingNot ApplicableIIT

The accuracy of ultrasound to predict endotracheal tube diameter in pediatric population undergoing general anaesthesia when compared to traditional age based formulae. A Prospective Randomized Comparative study - NIL

Start Date10 Feb 2024

Sponsor / Collaborator

All India Institute of Medical Sciences

100 Clinical Results associated with Preauricular Fistulae, Congenital

100 Translational Medicine associated with Preauricular Fistulae, Congenital

0 Patents (Medical) associated with Preauricular Fistulae, Congenital

533

Literatures (Medical) associated with Preauricular Fistulae, Congenital

01 Nov 2024·Plastic & Reconstructive Surgery

Prospective Study of Nonsurgical Auricular Correction According to Timing of Treatment

Article

Author: Choi, Sung-Won ; Oh, Se-Joon ; Lee, Jungwoo ; Seo, Myeonggu ; Lee, Hyun-Min ; Lee, Il-Woo ; Kong, Soo-Keun

Background:Many studies recommend nonsurgical auricular correction during the early postnatal period, when cartilage plasticity is high; however, many patients are not eligible for the procedure. This study compared different timings of nonsurgical auricular correction to investigate benefit after the optimal period for correction.Methods:In this prospective study, 53 ears from 35 patients with congenital auricular anomaly were assigned to 2 groups according to age at correction: the early group, with correction within 2 weeks of birth, and the late group, with correction 8 weeks after birth. Aesthetic outcomes, caregiver satisfaction, detachment rates, and mean device-wearing periods were compared.Results:Thirty-one ears from 20 patients constituted the early group, and 18 ears from 12 patients constituted the late group. Mean time to treatment after birth was 9.09 days in the early group and 134.7 days in the late group. In the early group, detachment occurred in 4 of 31 ears (12.9%), and in the late group, detachment occurred in 12 of 18 ears (66.7%), which was statistically significant (P < 0.01). The average period of applying devices was 4.7 ± 1.2 weeks in the early group and 8.5 ± 4.1 weeks in the late group, with a significantly longer treatment time in the late group (P = 0.001). The early group had 87.1% good results versus 55.6% good results in the late group, with a statistically significant difference.Conclusions:The correction period was shorter, detachment rate was lower, and treatment outcome was better in the early group. However, successful correction was also present in the late group, showing that the patients who have passed the optimum correction period should proceed after counseling.CLINICAL QUESTION/LEVEL OF EVIDENCE:Therapeutic, II.

10 Sep 2024·Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

[Genetic analysis of a Chinese pedigree affected with Branchio-oculo-facial syndrome and a literature review].

Review

Author: Guo, Yu ; Kong, Xiangdong ; Sun, Hengqing ; Li, Ke ; Sun, Gege ; Liu, Ning ; Duan, Huikun

OBJECTIVETo explore the genetic etiology of a Chinese pedigree affected with Branchio-oculo-facial syndrome (BOFS) and summarize the prenatal phenotype of BOFS patients.METHODSA pedigree with BOFS which had presented at the Genetics and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University in December 2021 was selected as the study subject. Clinical data of the pedigree was collected. The fetus was subjected to routine prenatal ultrasound scan. Trio-whole exome sequencing (trio-WES) was carried out for the fetus and its parents, and candidate variant was verified by Sanger sequencing. Relevant literature was searched from the database to summarize the prenatal phenotype of BOFS patients.RESULTSUltrasound exam suggested the fetus had cleft lip and palate. Its father had presented with high palatal arch, prematurely grayed hair, occult cleft lip, congenital preauricular fistula, red-green color blindness and unilateral renal agenesis. Its grandfather also had high palatal arch, prematurely gray hair, protruding ears, congenital preauricular fistula and hearing disorders. Trio-WES revealed that the fetus and its father had both harbored a heterozygous c.890-1G>A variant of the TFAP2A gene. The same variant was not found in its mother. Sanger sequencing confirmed that its grandfather had also harbored the same variant. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was rated as likely pathogenic (PVS1+PM2_Supporting). Combined with 36 similar cases retrieved from the literature, the prenatal phenotypes of BOFS patients had included growth restriction (25/37), renal abnormalities (10/37), cleft lip and palate (5/37) and oligohydramnios (5/37).CONCLUSIONThe c.890-1G>A variant of the TFAP2A gene probably underlay the pathogenesis of BOFS in this pedigree. Discovery of the novel variant has enriched the mutational spectrum of the TFAP2A gene. The common prenatal phenotypes of BOFS have included growth restriction, renal abnormalities, cleft lip and palate and oligohydramnios. Delineation of the intrauterine phenotype of BOFS may facilitate its prenatal diagnosis, clinical diagnosis, treatment and genetic counseling.

07 Sep 2024·Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery

[Treacher Collins Syndrome 2 caused by a novel pathogenic variant in PLOR1D: clinical report and literature review].

Review

Author: Lu, W ; Sun, S P ; Xu, H E ; Zuo, B ; He, W L ; Wang, H J

Objective: To investigate the clinical features, molecular etiology, and treatment of a family with Treacher Collins Syndrome 2 (TCS2). Methods: Information of the proband (female, 8 years old) including medical history and family history was collected. Physical examination and examinations concerning laboratory, audiology, and radiology were performed on the proband. Physical examination was also performed on the family members. Genomic DNA of proband was extracted for whole exome sequencing, and then the genomic DNA of family members was extracted for Sanger sequencing. POLR1D and TCS2 related literatures published before August 31,2023 were searched and sifted in PubMed and CKNI databases. The clinical characteristics of TCS2 were summarized. Results: The proband had poor hearing since childhood, with pure tone audiometry indicating conductive hearing loss. She had a smaller jaw, bilateral preauricular fistulas and cup-shaped ear deformities. Temporal bone CT scan revealed deformities in the left external ear canal, bilateral middle ear and inner ear. A bone-conduction hearing aid device was surgically implanted, resulting in restoration of almost normal hearing levels. The proband's mother also had a slightly smaller jaw. Genetic analysis revealed a novel heterozygous variant NM_015972.4:c.38_47del in the POLR1D gene in the proband, which was inherited from her mother. A review of the literature revealed no clear evidence of genotype-phenotype correlation in TCS2. Conclusions: Molecular diagnosis plays a vital role in the diagnosis of TCS2. Patients with normal facial phenotype may be carriers of pathogenic variants in the POLR1D gene and have the risk of passing it to the offsprings with complete penetrance. Proper bone conductive hearing devices can improve the quality of life of TCS2 patients.

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Preauricular Fistulae, Congenital

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