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Goldenhar syndrome is a rare congenital defect characterized by incomplete development of the ear, nose, soft palate, lip and mandible on usually one side of the body. Common clinical manifestations include limbal dermoids , preauricular skin tags and strabismus . [ 1 ]
The VACTERL association (also VATER association, and less accurately VACTERL syndrome) refers to a recognized group of birth defects which tend to co-occur (see below). This pattern is a recognized association, as opposed to a syndrome , because there is no known pathogenetic cause to explain the grouped incidence.
Goldenhar syndrome; H. Harlequin-type ichthyosis; Heart disorders (Congenital heart defects) ... List of ICD-9 codes 740–759: congenital anomalies; Rare disease
Depending upon the treatment required, it is sometimes most appropriate to wait until later in life for a surgical remedy – the childhood growth of the face may highlight or increase the symptoms. When surgery is required, particularly when there is a severe disfiguration of the jaw, it is common to use a rib graft to help correct the shape.
The WHO Model List of Essential Medicines for Children (aka Essential Medicines List for Children [1] or EMLc [1]), published by the World Health Organization (WHO), contains the medications considered to be most effective and safe in children up to twelve years of age to meet the most important needs in a health system.
Maurice Goldenhar (January 15, 1924 – September 11, 2001) was a Belgian–American ophthalmologist and general practitioner. He emigrated from Belgium to the United States in 1940. He later returned to Europe for medical studies, and then returned once again to the United States. [1] He first diagnosed what became known as Goldenhar syndrome ...
Alipogene tiparvovec (Glybera): AAV-based treatment for lipoprotein lipase deficiency (no longer commercially available) Axicabtagene ciloleucel (Yescarta): treatment for large B-cell lymphoma [1] Beremagene geperpavec (Vyjuvek): treatment of wounds. [2] Betibeglogene autotemcel (Zynteglo): treatment for beta thalassemia [3]
Dankelson was born in Michigan in the year 2000. [1] He was born 10 weeks early and weighed less than three pounds. [2] He was born with numerous birth defects such as microtia and atresia due to Goldenhar syndrome, and has had 36 surgeries to correct his facial, airway and other deformities. [3]