Goldenhar Syndrome - Review with Case Series

Ashokan, Chandan; Sreenivasan, Arathi; Saraswathy, Gopal K

doi:10.7860/jcdr/2014/7926.4260

Cited by 22 publications

(19 citation statements)

References 7 publications

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“…In the present TBS case, the correct diagnosis was delayed until the patient reached ESRF, suggesting that recognition of extra-renal features is of critical importance in making a diagnosis in cystic kidney diseases, particularly when renal imaging is atypical. The possibility that clinical features of TBS may overlap with other rare developmental syndromes such as VACTERL association ( 24 ), Goldenhar syndrome ( 25 ) and branchiootorenal (BOR) syndrome ( 26 ), should also be considered. Additional features, such as vertebral abnormalities and trachea-esophageal fistula in VACTERAL association, craniofacial abnormalities in Goldenhar syndrome and branchial arch anomalies in BOR syndrome, may aid the diagnosis of these disorders.…”

Section: Discussionmentioning

confidence: 99%

Delayed diagnosis of Townes-Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report

Lin

Gale

et al. 2016

Experimental and Therapeutic Medicine

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Townes-Brocks syndrome (TBS) is a rare autosomal dominant congenital anomaly syndrome characterized by the triad of anorectal, hand and external ear malformations. Kidney involvement is less common and may progress to end-stage renal failure (ESRF) early in life. The present study reports the case of a male patient presenting with multiple bilateral cortical kidney cysts at the age of 4 years, at which time the kidneys were of normal size and function. A clinical diagnosis of autosomal recessive polycystic kidney disease was made initially as the patient's parents are clinically healthy. However, the consideration of extra-renal involvements (imperforate anus at birth, preaxial polydactyly and dysplastic right ear) following the progression of the patient to ESRF at the age of 16 years, led to the diagnosis of TBS. This prompted sequencing of the SALL1 gene, which identified a novel heterozygous nonsense mutation in the mutational ‘hotspot’ of exon 2 (c.874C>T, p.Q292X), and this mutation was not detected in healthy controls. The current case highlights that TBS may present with normal sized, cystic kidneys in childhood, while recognition of extra-renal features of cystic kidney diseases, such as TBS, and genetic testing may facilitate the correct diagnosis and transmission mode. Reaching a correct diagnosis of as TBS is important since this condition has a 50% rate of transmission to offspring and can progress to ESRF early in life.

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Section: Discussionmentioning

confidence: 99%

Delayed diagnosis of Townes-Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report

Lin

Gale

et al. 2016

Experimental and Therapeutic Medicine

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“…GS is generally thought to be due to a developmental abnormality of 1st and 2nd branchial arches and vertebral bodies resulting in the triad of craniofacial microsomia and ocular and vertebral abnormalities. Given this typical triad, it has also become known as oculo-auriculo-vertebral dysplasia (OAVD) [ 1 ]. The diagnosis of this condition is mostly based on these characteristic clinical findings but supportive radiologic and laboratory results can be helpful.…”

Section: Discussionmentioning

confidence: 99%

Goldenhar Syndrome Associated with Extensive Arterial Malformations

Modica

Barbeau

Co-Vu

et al. 2015

Case Reports in Pediatrics

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Goldenhar Syndrome is characterized by craniofacial, ocular and vertebral defects secondary to abnormal development of the 1st and 2nd branchial arches and vertebrae. Other findings include cardiac and vascular abnormalities. Though these associations are known, the specific anomalies are not well defined. We present a 7-month-old infant with intermittent respiratory distress that did not improve with respiratory interventions. Echocardiogram suggested a double aortic arch. Cardiac CT angiogram confirmed a right arch and aberrant, stenotic left subclavian artery, dilation of the main pulmonary artery, and agenesis of the left thyroid lobe. Repeat echocardiograms were concerning for severely dilated coronary arteries. Given dilation, a rheumatologic workup ensued, only identifying few weakly positive autoantibodies. Further imaging demonstrated narrowing of the aorta below the renal arteries and extending into the common iliac arteries and proximal femoral arteries. Given a physical exam devoid of rheumatologic findings, only weakly positive autoantibodies, normal inflammatory markers, and presence of the coronary artery dilation, the peripheral artery narrowings were not thought to be vasculitic. This case illustrates the need to identify definitive anomalies related to Goldenhar Syndrome. Although this infant's presentation is rare, recognition of specific vascular findings will help differentiate Goldenhar Syndrome from other disease processes.

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“…Los niños con este sín-drome presentan un riesgo más elevado de alteraciones psicosociales, por lo tanto, debe existir una asesoría en este sentido tanto para el paciente como para su familia en cuanto a su integración a la comunidad y la toma de decisiones acerca de las cirugías y la adaptación a la asimetría facial. El pronóstico de esta enfermedad es bueno mientras sean casos poco complejos y sin asociaciones sistémicas 14 .…”

Section: Tratamiento -Antecedentesunclassified

“…Sin asistencia auditiva o reconstrucciones quirúrgicas, los individuos con microtia bilateral completa y atresia podrían desarrollar sordomudez permanente. Los ultrasonidos renales y cardiacos también han sido recomendados debido al riesgo aumentado de defectos de nacimiento en estas áreas 14 .…”

Section: Tratamiento -Antecedentesunclassified

Síndrome de Goldenhar y microsomía hemifacial. Revisión de la literatura

Cazenave

Leiva

Morovic

2017

Odontol. sanmarquina

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La microsomía hemifacial corresponde a la segunda malformación congénita en prevalencia, luego de la fisura labiopalatina, y se describe como una alteración congénita del primer y el segundo arcos branquiales. El síndrome de Goldenhar tiene características típicas de la microsomía hemifacial, con la adición de dermoides epibulbares y anomalías vertebrales. Ambas patologías presentan características de expresión variable y por tanto los tratamientos son acordes a su individualidad. En esta revisión de tema se analizan su etiología, clasificaciones, características y tratamiento.

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Goldenhar Syndrome - Review with Case Series

Cited by 22 publications

References 7 publications

Delayed diagnosis of Townes-Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report

Delayed diagnosis of Townes-Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report

Goldenhar Syndrome Associated with Extensive Arterial Malformations

Síndrome de Goldenhar y microsomía hemifacial. Revisión de la literatura

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