PubMed Goldenhar Literature overview

Airway Obstruction Management With Mandibular Distraction and Matthews Device in Pruzansky III Craniofacial Microsomia.

Patients with craniofacial microsomia (CFM) may present with severely malformed mandibles resulting in secondary tongue-based airway obstruction. While surgical management of clinically significant airway obstruction in these patients often involves mandibular distraction osteogenesis (MDO), patients with Pruzansky III CFM typically require additional costochondral bone grafting. In this report, the authors present the successful surgical management of airway obstruction and severe obstructive sleep apnea using a cranio-mandibular fixator (Matthews device) combined with MDO in a 4-year-old female patient with Goldenhar syndrome and associated Pruzansky III CFM. The patient tolerated the procedure without complications and experienced a significant improvement in airway obstruction. With this approach, a severely deformed mandible can be successfully distracted while avoiding tracheostomy and disruption of native TMJ anatomy.


Renal anomalies and microtia: Determining the clinical utility of screening affected children.

Microtia is a congenital ear anomaly that hinders quality of life. Microtia patients, both syndromic and in isolation, may be at-risk for significant renal anomalies that can go undetected at the time of birth. The goal of this study was to characterize the prevalence of renal anomalies among microtia patients at our institution in order to guide optimal patient management. Current guidelines suggest performing a renal ultrasound when there is presence of preauricular pits and ear anomalies in association with dysmorphic features, but not in cases of isolated microtia and atresia.A retrospective review of 237 children with microtia was conducted from 2001 through 2018 at our tertiary-care pediatric institution, of which 98 also had a documented renal ultrasound. Patients were identified as syndromic or non-syndromic. Data endpoints included renal ultrasounds performed, structural anomalies found, and follow-up.Among the 237 patients, 98 had received renal ultrasounds. 12% of the total cohort was found to be syndromic, the most common being Goldenhar. Structural anomalies were detected in 24% of the 98 patients that underwent ultrasound and included disorders such as pelviectasis, renal ectopia, duplicated collecting systems, and renal agenesis. A third of patients with anomalies required follow-up with nephrology for chronic kidney disease or renal failure. Of note, 21% of non-syndromic patients and 43% of syndromic patients screened had an abnormality on ultrasonography.Children with microtia are at a significant risk of structural renal abnormalities, even when isolated outside of a genetic syndrome. We recommend the strong consideration of performing a screening renal ultrasound in all patients with microtia. Prospective data would be helpful in developing future clinical guidelines regarding the utility of screening ultrasonography.


Peters Anomaly: A Five-Year Experience.

Peters anomaly is a rare, congenital eye malformation characterized by an opaque cornea and blurred vision. Central corneal opacification can lead to delayed progression of visual development caused by defects in Descemet membrane and the posterior stroma. These children require several anesthetics for multiple eye exams under anesthesia and corneal transplantation.We sought to review the anesthetic management of patients with Peters anomaly for ophthalmologic procedures at Westchester Medical Center, a major referral center for Peters anomaly.A retrospective chart review was completed which included pediatric patients who underwent ophthalmologic procedures related to Peters anomaly from 2013-2018.The charts of 35 patients with Peters anomaly were reviewed: 14 patients with Peters anomaly Type I, 10 patients with Peters anomaly Type II, and 11 patients with Peters plus syndrome. Thirty patients required three procedures on average, two exams under anesthesia pre-and post-transplant, and anesthesia for the corneal transplant itself. The youngest patient encountered for exam under anesthesia was 39-weeks post-conceptual age. Anesthetic time for exam under anesthesia averaged 31 minutes using a laryngeal mask airway while corneal transplant averaged 104 minutes utilizing endotracheal intubation. Post anesthesia care unit stay averaged 51 minutes following exam under anesthesia and 65 minutes after corneal transplant. All exams under anesthesia were successfully completed without adverse events with the use of a laryngeal mask airway. This case series includes two patients with Goldenhar syndrome and Al-Galazi syndrome accompanying Peters anomaly.Although limited by its retrospective nature, this case series describes the cardiac and systemic implications of patients undergoing anesthesia with Peters anomaly. Our experience indicates that general anesthesia and airway manipulation are tolerated with minor postoperative concerns in these infants. Pediatric patients with Peters anomaly require multiple anesthetics for repeated ophthalmologic interventions. The laryngeal mask airway can be routinely utilized in infants less than 3 months of age for an eye exam under anesthesia with no airway complications noted. Perioperative providers should be aware of the multisystemic implications in patients with Peters plus syndrome.


Growth-Friendly Surgery Is Effective at Treating Early-Onset Scoliosis Associated With Goldenhar Syndrome.

To evaluate the radiographic results and complications of growth-friendly (GF) surgery in the treatment of early-onset scoliosis (EOS) associated with Goldenhar syndrome.Goldenhar syndrome has been associated with spinal deformity, which may be progressive. Efficacy and complication rate of GF treatment has not been reported for this population of patients with EOS.Patients with Goldenhar syndrome and EOS with two years’ follow-up were identified from two international multicenter EOS databases. Scoliosis, kyphosis, spine height, and hemithoracic height/width were determined preimplant, immediately postoperative, and at the two-year follow-up. Severity of complications (SV) was recorded (Smith et al. JPO 2015).Ten patients met inclusion criteria and had a mean age of 4.6 ± 2.5 years at GF implantation (one spine and nine rib-based). Mean preoperative scoliosis was 64°, postimplant 52°, and at mean follow up of 2.4 ± 0.5 years was 50° (p = .09). Preoperative kyphosis was 36°, postimplant 38°, and final 42° (p = .08). Preoperative T1-S1 height was 23.5 cm, postimplant 23.6 cm, and final 27.3 cm (p = .06). Preoperative convex hemithoracic height was 10.4 cm, postimplant 7.9 cm, and final 12.8 cm (p < .05). Preoperative concave hemithoracic height was 8.4 cm, postimplant 8.8 cm, and final 9.9 cm (p = .30). Preoperative right hemithoracic width was 8.02 cm, postimplant 7.22 cm, and final 7.86 cm (p = .07).

Preoperative left hemithoracic width was 7.18 cm, postimplant 7.86 cm, and final 8.60 cm (p = .43). Eight patients had ≥1 complication with SV I (n = 7), SV II (n = 2), and SV IIA (n = 7). These included infection (n = 4), migration (n = 3), pneumonia (n = 2), and instrumentation failure (n = 2).At minimum two-year follow-up, GF surgical intervention for the treatment of EOS associated with Goldenhar syndrome trended toward improvements in scoliosis and spine height, but had a significant improvement in convex hemithoracic height; however, the majority of patients experienced severity grade I or II complications.Level IV.


Goldenhar Syndrome in a 6-Year-Old Patient: a Case Report and Review of Literature.

Goldenhar syndrome (GHS) is a complex syndrome characterized by relation of mandibular hypoplasia, abnormality of the ear, ocular dermoid and vertebral disorders and hemi facial macrosomia. Treatment protocol depends on the patient’s age and systemic clinical presentations, with a multidisciplinary method often being required.

This case report describes a typical 6-year-old female patient who presented to the Department of Pediatric Dentistry, Faculty of Dentistry, University of Medical Sciences, Kerman, Iran with mandibular hypoplasia, facial asymmetry, ear tags and ocular dermoid after plastic surgery.

Diagnosis was based on clinical aspects, radiology and laboratory findings. GHS is a developmental complaint that can disturb many aspects of the patient’s life; therefore, immediate treatment from birth is necessary.