Prevalence of Renal and Cervical Vertebral Anomalies in Patients with Isolated Microtia and/or Aural Atresia

Zim, Shane; Lee, Janet Waimin; Rubinstein, Brian; Senders, Craig W

doi:10.1597/16-115

Cited by 15 publications

(11 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…These anomalies resolved over the course of subsequent follow-up, and the authors concluded that renal ultrasound may not be necessary in patients with isolated microtia. 10 Similarly, a more recent study revealed that 7% of patients with isolated microtia had renal abnormalities. 11 Our results show a higher incidence of these findings, albeit with a limited sample size.…”

Section: Discussionmentioning

confidence: 96%

Utilization of Diagnostic Testing for Renal Anomalies and Congenital Heart Disease in Patients with Microtia

Ramprasad

Shaffer²,

Jabbour³

2020

Otolaryngol.--head neck surg.

View full text Add to dashboard Cite

Objective Congenital ear anomalies are associated with congenital cardiac and renal defects. Renal ultrasounds, electrocardiogram, and echocardiogram can be utilized for diagnosis of these concurrent defects. No standard of care exists for the workup of patients with microtia. The goals of this study were to describe the utilization of diagnostic testing for cardiac and renal anomalies and to identify their prevalence in patients with microtia. Study Design Case series with chart review. Setting Children’s Hospital of Pittsburgh of the University of Pittsburgh Medical Center. Subjects and Methods This study is an Institutional Review Board–approved retrospective review of consecutive patients born between 2002 and 2016 who were diagnosed with microtia and seen in the otolaryngology clinic at a tertiary care children’s hospital. Demographics, sidedness and grade of microtia, comorbid diagnoses, and details of renal and cardiovascular evaluations were recorded. Factors associated with retroperitoneal ultrasound and cardiac testing were assessed with logistic regression. Results Microtia was present in 102 patients, and 98 patients were included as they received follow-up. Microtia was associated with craniofacial syndrome in 34.7% of patients. Renal ultrasound was performed in 64.3% of patients, and 12.9% of patients with ultrasounds had renal aplasia. Cardiac workup (electrocardiogram or echocardiogram) was completed in 60.2% of patients, and of this subset, 54.2% had a congenital heart defect. Conclusion Diagnostic testing revealed renal anomalies and cardiac defects in patients with isolated microtia at a higher rate than in the general population. This suggests the need for further evaluation of the role of routine screening in patients with microtia.

show abstract

Section: Discussionmentioning

confidence: 96%

Utilization of Diagnostic Testing for Renal Anomalies and Congenital Heart Disease in Patients with Microtia

Ramprasad

Shaffer²,

Jabbour³

2020

Otolaryngol.--head neck surg.

View full text Add to dashboard Cite

show abstract

“…It has been suggested that clinicians should perform renal ultrasound in patients with syndromic and nonsyndromic microtia, as 16%–29% of such patients have kidney abnormalities (Koening et al, 2018; Wang et al, 2001). At least one research group found that spinal X‐ray was not justified due to the lack of associated vertebral abnormalities in their study population (Zim et al, 2017). However, another group recommended that complete spinal X‐ray and a renal ultrasound should be performed when craniofacial microsomia is detected, because vertebral (47%) and genitourinary (29%) abnormalities were clearly noted in such cases (Cohen et al, 2017) (Table 3).…”

Section: Discussionmentioning

confidence: 99%

“…Some authors have suggested clinical approaches for patients with microtia and/or craniofacial microsomia (Cohen et al, 2017; Heike et al, 2013; Koening et al, 2018; Wang et al, 2001; Zim et al, 2017). However, we currently lack any consensus on which imaging studies (orthopantomography, full spine X‐ray, renal ultrasound) should be performed in patients with microtia/OAVS and their parents or other relatives as part of a comprehensive clinical approach to rule out variable expressivity and adequately classify “sporadic” versus “familial” patients.…”

Section: Introductionmentioning

confidence: 99%

Proposed clinical approach and imaging studies in families with oculo‐auriculo‐vertebral spectrum to assess variable expressivity

Estandía-Ortega

Fernández-Hernández

Alcántara-Ortigoza

et al. 2022

American J of Med Genetics Pt A

View full text Add to dashboard Cite

A diagnosis of oculo‐auriculo‐vertebral spectrum (OAVS) is established when microtia is present in association with hemifacial hypoplasia (HH) and/or ocular, vertebral, and/or renal malformations. There is no consensus on which imaging studies should be used to rule out variable expressivity and distinguish “sporadic” from “familial” patients. This observational and descriptive study was performed in a Mexican population of 51 patients (32 males, 19 females, 0–18 years old) with microtia/OAVS, and their available parents. A clinical history, genealogy, and physical examination were obtained from all included patients, as were a computed tomography (CT) scan of the ear, audiological evaluation, orthopantomography, complete spine radiography, and renal ultrasound. The same approach was completed in their available parents (51 mothers and 40 fathers), excluding the CT scan and audiological evaluation. By genealogy, 53% of patients were classified as “sporadic”; of the “familial” patients, at least 79.1% had suggestion of a multifactorial inheritance. In the available parents, orthopantomography, complete spine X‐ray, and renal ultrasound identified the following OAVS‐related manifestations: HH (16.2%, n = 14/86), vertebral alterations (10.9%, n = 10/91), and renal anomalies (2.2%, n = 2/90). Our evaluation of the parents allowed three patients to be reclassified from “sporadic” to “familial” (5.8%, n = 3/51). Our proposed clinical and imaging approach allowed the identification of variable expressivity that more clearly distinguished between “sporadic” and “familial” OAVS patients, which is of utmost importance in providing proper genetic counseling to these families.

show abstract

“…The most common syndromes associated with microtia are Townes-Brock syndrome, Goldenhar syndrome (oculoauriculovertebral spectrum), Treacher Collins and branchio-oto-renal syndrome [6,22,23].…”

Section: J Clinical Otorhinolaryngologymentioning

confidence: 99%

Congenital Anomalies of The Ear in Newborns from Lviv Region (west Ukraine) for 2006-2018 YY.

Nataliya¹

2020

JCO

View full text Add to dashboard Cite

Objectives The ear’s congenital anomalies usually occur in the outer, middle or inner ear separately or in combination. We had determined the сongenital ear’s anomalies (CEA) in newborns (2006-2018 yy) in West Ukraine, Lviv region. Methods 14 newborns who were diagnosed according to the reporting form by the maternity hospitals with CEA were analyzed over a period of 13 years.Results During the study period (2006–2018), there were 366 147 births reported, and 8634 newborns with birth defects, 14 were with CEA, an average incidence of 0.4 per 10 000 births. Our study included 10 boys and 4 girls with CEA. Male-to-female ratio was 2.5:1. The number of newborns with ear pathology was 1.8 times higher in the city than in the village. The most common birth defects of the ear were Q16.1 congenital absence, atresia and stricture of auditory canal (external) – 4 (28.6%) and Q16.9 CEA causing impairment of hearing, unspecified – 4 (28.6%), especially the most common of right side. Microtia (Q17.2) was met very rarely -1 (7.1%) and other CEA Q16.9-1 (7.1%). During this period there were only 2 cases of anotia and 1 case of microtia. There was only 1 (7.1%) case of bilateral CEA in boy from town. Just one girl had CEA was associated with birth defect of musculoskeletal system. Conclusion This is necessary to establish the correct diagnosis in time, especially for mind of the family doctors, genetic counseling for relatives family for has benefited earlier prophylaxis.

show abstract

Prevalence of Renal and Cervical Vertebral Anomalies in Patients with Isolated Microtia and/or Aural Atresia

Abstract: The data suggest that there is no increased prevalence of structural renal or cervical vertebral anomalies in patients with isolated microtia and/or aural atresia. Therefore, these patients do not require routine screening renal ultrasound or cervical spine X-rays.

Cited by 15 publications

References 17 publications

Utilization of Diagnostic Testing for Renal Anomalies and Congenital Heart Disease in Patients with Microtia

Utilization of Diagnostic Testing for Renal Anomalies and Congenital Heart Disease in Patients with Microtia

Proposed clinical approach and imaging studies in families with oculo‐auriculo‐vertebral spectrum to assess variable expressivity

Congenital Anomalies of The Ear in Newborns from Lviv Region (west Ukraine) for 2006-2018 YY.

Contact Info

Product

Resources

About