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Paediatrics
Published in Adnan Darr, Karan Jolly, Jameel Muzaffar, ENT Vivas, 2023
Paula Coyle, Eishaan Bhargava, Adnan Darr, Karan Jolly, Kate Stephenson, Michael Kuo
Background: Lateral and superior to the facial nerve and parotidInherited in autosomal dominant fashion (20–30% of cases), mainly sporadicBilateral in 25–50% of casesDue to incomplete fusion of hillocks of HisPits extend to cartilage, sinuses down to tympanic ringAlmost always connects to perichondrium of ear cartilageAssociations: First arch anomalies Branchio-oto-renal syndromeGoldenhar syndromeTreacher Collins syndrome
Oral and craniofacial disorders
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Goldenhar syndrome must be distinguished from the superficially similar Treacher Collins syndrome. The external ear defects are more marked, mental retardation is common, and epibulbar dermoid cyst of the eye is characteristic. Most cases are sporadic, and the recurrence risk where parents are normal is low.
Conservative Management of Early-Onset Scoliosis
Published in Alaaeldin (Alaa) Azmi Ahmad, Aakash Agarwal, Early-Onset Scoliosis, 2021
Muhammad Tariq Sohail, Shahid Ali
Etiologies are listed in prioritised order from highest to lowest. When etiology is mixed and/or unclear, etiologic assignment should be made starting from the top of the list. Congenital/Structural: Curves developing because of a structural abnormality or asymmetry of the spine and/or thoracic cavity, e.g. hemivertebrae (Figure 6.4), fused ribs, post thoracotomy, thoracogonic, iatrogenic (postthoracotomy), tumor (pre- or postresection), amniotic band syndrome, hemihypertrophy, neurofibromatosis (NF) (dysplastic type), congenital diaphragmatic hernia, congenital heart defect, Proteus syndrome, Jeune's syndrome, Congenital chest wall deformity, Jarcho-Lovin syndrome, spondylothoracic dysplasia, spondylocostal dysplasia, and VATER/VACTERL.Neuromuscular: Curves without congenital or structural abnormalities in which the deformation is primarily attributable to a neuromuscular abnormality of high or low tone (Figure 6.5) e.g. flaccid spinal cord injury, spinal muscular atrophy, muscular dystrophy, spina bifida, low tone cerebral palsy (CP), Freidrich’s ataxia, familial dysautonomia, syringomyelia, Charcot-Marie-Tooth disease, CHARGE syndrome, spastic CP, spastic spinal cord injury, and Rett syndrome.Syndromic: Syndromes with known or possible association with scoliosis that are not primarily related to congenital/structural or neuromuscular etiology, e.g. spinal dysraphism, Ehlers-Danlos syndrome (and other connective tissue disorders), Prader-Willi syndrome, Marfan syndrome, achondroplasia, arthrogryposis, diastrophic dysplasia, Ellis Van Creveld syndrome, NF, osteogenesis imperfecta, spondyloepiphyseal dysplasia. Down’s syndrome, Goldenhar syndrome, Klippel Feil syndrome.Idiopathic: No clear causal agent (can include children with a significant comorbidity that has no defined association with scoliosis).
Posterior semi-circular canal electrode misplacement in Goldenhar’s syndrome
Published in Cochlear Implants International, 2021
Ashish Castellino, Pabina Rayamajhi, Rahul Kurkure, Mohan Kameswaran
Goldenhar Syndrome may manifest in its mildest form as unilateral microtia, which has been suggested as a mandatory feature, to more severe forms involving facial, cardiac, renal and skeletal systems (Rollnick & Kaye, 1983). Its incidence ranges from 1/3500–1/5600 with a male female ratio of 3:2 (Gorlin et al., 2002). Features include facial asymmetry in 65% (Bartoshesky et al., 1986) with reduction in size and flattening of the temporal, maxillary and malar bones, epibulbar dermoids in 35% (Baum & Feingold, 1973) and cervical vertebral fusions in 60% (Avon & Shively, 1988). Pinna abnormalities range from anotia to mildly dysmorphic ears and are seen in over 65% (Coccaro et al., 1975). External auditory canals may range from narrow to atretic, with ear defects usually being asymmetrical (Bennun et al., 1985). Hypoplasia or agenesis of the ossicles, aberrant facial nerves, patulous or absent Eustachian tubes and skull base anomalies have been reported in greater than 50% with conductive hearing loss more common than sensorineural (Bassila & Goldberg, 1989; Sando & Ikeda, 1986).
Clinical and histological features and outcomes of upper eyelid colobomas in the Saudi population
Published in Orbit, 2020
Dalal Al Essa, Rajiv Khandekar, Alicia Galindo-Ferreiro, Deepak P. Edward, Azza Maktabi, Hailah Al Hussein, Osama Al Sheikh, Diego Strianese, Silvana A. Schellini
The 15 unilateral (55.6%) and 12 bilateral (44.4%) cases had similar clinical features. The majority of patients presented with isolated CEC (17 patients; 62.9%), and 10 patients (37.1%) presented with CEC associated with systemic or craniofacial defects. The associated syndromes included Goldenhar syndrome (5 patients; 50%), and Treacher-Collins syndrome (1 patient; 10%) (Table 3). Abnormal developmental milestones were noted in 4 patients (14.8%). Cryptophthalmos (total closure) was observed in 3 patients (11.1%; see Table 3). The most common ocular abnormalities related to CEC were corneal adhesion (18 eyes; 46.2%) and poorly formed eyebrows (21 eyebrows; 53.8%). The medial aspect of the upper lid was the most common location (56.4%). Twenty-seven (69.2%) lids had full thickness involvement (Table 3; Figure 1).
Odontogenic choristoma presenting as dermolipoma
Published in Orbit, 2019
Clara J. Men, Frances Wu, Bradford W. Lee, Jonathan H. Lin, Bobby S. Korn, Don O. Kikkawa
Sporadic cases of dermolipoma occur as isolated congenital anomalies. However, dermolipoma is also known to be associated with Goldenhar syndrome. Affected patients may exhibit a heterogenous range of phenotypes including preauricular skin appendages, hearing loss, eyelid coloboma, and other abnormalities. Our patient had no evidence of syndromic association. Both Goldenhar syndrome and sporadic dermolipoma are thought to arise from anomalies in the first and second branchial arches.10,11 Interestingly, odontogenesis arises from the first branchial arch, involving elements of ectoderm and mesoderm. Abnormalities in the development of the branchial arches thus offer a potential explanation for this atypical case of a tooth occurring within a dermolipoma. Alternatively, pluripotential stem cells have been known to reside in orbital adipose tissue, providing another possible source of tooth development.12