The authors report the case of a fourteen months old girl who presented with emisomal, uropoietic and vertebral anomalies associated with neurologic handicap. These features can be considered characteristic of facio-auriculo-vertebral spectrum. This syndrome was not frequently described in Italian pediatric literature.
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Pan Afr Med J
September 2021
Department of Community Physiotherapy, Jawaharlal Nehru Medical College, Datta Meghe Institute of Medical Sciences (Deemed to be University), Ravi Nair College of Physiotherapy, Sawangi (M), Wardha-442001, Maharashtra, India.
The MSX homeobox genes cause Goldenhar syndrome (GHS) or facio-auriculo-vertebral dysplasia, a rare developmental defect. Its exact etiology is still unknown. Its incidence lies between 1: 3500 and 1: 5600.
View Article and Find Full Text PDFNepal J Ophthalmol
January 2021
Chacha Nehru Bal Chikitsalya, New Delhi, India.
Goldenhars syndrome also known as facio auriculo vertebral dysplasia or first and second arch branchial syndrome has a prevalence of 1:3500 births to 1: 7500 births with male predisposition. We hereby present a case series of children presenting with Goldenhars syndrome.
View Article and Find Full Text PDFJ Radiol Case Rep
November 2019
Department of Human Morphology, Belarusian State Medical University, Minsk, Belarus.
The article presents a case report and literature review of hemifacial microsomia with cervical vertebral anomalies. Unilateral hypoplasia of the mandible, congenital anomalies of the external ear and cervical spine pathology identified in this case are common major signs/symptoms of Goldenhar (Goldenhar-Gorlin) syndrome. Complete fusion of bodies and spinous processes of the second and third cervical vertebrae as well as atlantooccipital assimilation and anterior cleft of the atlas were also found.
View Article and Find Full Text PDFInt J Paleopathol
March 2019
Independent Researcher and Photographer, Buffalo, New York, United States.
Objective: This paper presents a possible case of Facio-Auriculo-Vertebral sequence (FAVs) in an adult female from Haffjarðarey, Western Iceland (1200-1563 CE) and a brief review of associated terminology.
Materials: The skeletal remains of a single adult female (HFE-A-34, 18-24 years old), excavated in 1945 by the National Museum of Iceland.
Methods: We carried out macroscopic examination of the cranium and mandible in 2017.
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