We investigated the incidence and co-existence of hearing impairment and renal abnormalities in healthy children with preauricular tags and pits. Study population consists of 13,740 primary school children from routine health check. Thirty-five children with preauricular tags and pits were noted. Control group consisted of 91 patients without pits and tags, who underwent renal ultrasound and were scheduled to pediatric outpatient clinic. Urinalysis, renal ultrasound, otoacoustic emission were performed in both the groups. The prevalence of renal abnormality (1/36; 2.7%) and hearing impairment (1/36; 2.7%) in patients with preauricular tags and pits was similar to that of control group (3/91; 3.2% and 4/91; 4.3%) (P = 0.87, P = 0.64, respectively). According to our results, it is not necessary to investigate hearing or urinary abnormality in patients with preauricular tag or pit, unless there is an association of a syndrome or family history of hearing or renal impairment.
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http://dx.doi.org/10.1007/s00405-008-0595-y | DOI Listing |
Rom J Ophthalmol
October 2024
ENT Department, Military Hospital, Jammu, J&K, India.
Objective: To investigate the clinical characteristics, associated systemic features, and management outcomes of patients with limbal dermoids diagnosed with Goldenhar syndrome.
Methods: This case series included patients from the eye outpatient department, diagnosed with Goldenhar syndrome based on systemic evaluation. Demographic data, ophthalmological assessments, and systemic evaluations were recorded.
Cureus
September 2024
Pediatrics, Saveetha Medical College and Hospitals, Saveetha Institute of Technical and Medical Sciences, Saveetha University, Chennai, IND.
Kabuki syndrome is an autosomal dominant disorder characterized by distinct facial features, including long palpebral fissures, a short columella with a flat, broad nasal tip, ptosis, and cleft lip/palate. The syndrome was named for the resemblance of the facial features to the make-up worn by traditional Kabuki performers. We report the case of a 10-month-old female infant admitted for cleft palate repair.
View Article and Find Full Text PDFEur J Hum Genet
September 2024
Laboratoire « Embryologie et Génétique des Malformations », Institut Imagine, INSERM UMR1163, Université Paris Cité, Paris, France.
Oculo-auriculo-vertebral spectrum (OAVS) is characterized by abnormal development of the 1st and 2nd branchial arches. Despite arguments against a monogenic condition, a few genes have been involved in a minority of cases. We now report heterozygous, presumably loss-of function variants in the CHAF1A gene in 8 individuals, including 3 members of the same family.
View Article and Find Full Text PDFInt J Surg Case Rep
November 2024
Department of Cardiology, All India Institute of Medical Sciences, Rishikesh, India.
Introduction And Clinical Importance: Goldenhar syndrome (GS) manifests as a triad of ocular, auricular, and vertebral anomalies. We present a rare case report presenting with monocular elevation deficiency (MED) in association with GS secondary to radiologically proven vascular insufficiency.
Case Presentation: A 9-year-old male presented with drooping of the upper eyelid in the right eye (OD), absence of right ear, and swelling near the ear remanent.
Am J Med Genet A
September 2024
Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA.
Haploinsufficiency of SF3B2 is associated with craniofacial microsomia, characterized by mandibular hypoplasia and microtia, often with preauricular tags or pits, epibulbar dermoids, and cleft palate. In addition, extracraniofacial anomalies may be present, such as skeletal, cardiac renal, and abnormalities of the central nervous system. Variants have been either de novo or inherited, and both inter- and intrafamilial variability has been observed.
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