Intrauterine death of a child with Goldenhar syndrome: a case presentation and review of the literature

Linder, Marie; Fittschen, M.; Seidmann, Larissa; Bahlmann, Franz

doi:10.1007/s00404-012-2319-1

Cited by 6 publications

(3 citation statements)

References 7 publications

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“…MCDK has been reported with over 80 different syndromes and multiple congenital anomalies . We report here that one of our unilateral cases with complex anomalies was found to be Goldenhar syndrome …”

Section: Discussionmentioning

confidence: 71%

“…26 We report here that one of our unilateral cases with complex anomalies was found to be Goldenhar syndrome. 27 Whereas some studies suggest a third trimester routine US after the 32nd week of gestation for a better MCDK detection rate, 9 many recommend the second trimester window to not miss the cases that show antenatal size reduction. 24 All of our cases were detected between the 16th and 25th weeks of gestation with a mean gestational age of 20-21 weeks.…”

Section: Discussionmentioning

confidence: 99%

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Prenatal diagnosis of multicystic dysplastic kidney disease in the second trimester screening

et al. 2013

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Section: Discussionmentioning

confidence: 71%

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of multicystic dysplastic kidney disease in the second trimester screening

et al. 2013

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“…Currently, a diagnosis depends on clinical manifestations. In particular, GS presents with multiple malformations and various clinical manifestations [ 2 ], including ocular abnormalities; aural, facial, and spinal dysplasia and other systemic abnormalities [ 3 ].…”

Section: Introductionmentioning

confidence: 99%

Goldenhar syndrome with blepharophimosis and limb deformities: a case report

et al. 2018

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BackgroundGoldenhar syndrome has variable presentations and can affect multiple regions of the body. Diagnoses are based on clinical manifestations. The association of Goldenhar syndrome with blepharophimosis and limb deformities has not previously been reported. Here, we describe a patient who was diagnosed with Goldenhar syndrome in association with blepharophimosis, ocular hypertelorism, hearing loss and limb deformities.Case presentationA 10-year-old male was first referred to our ophthalmology clinic on 2009–2-11 for ocular hypertelorism and microphthalmia when he had chin-up position. In the first ophthalmic examination, his palpebral fissure length was 19 mm on the right and 20 mm on the left, both palpebral fissure height was 4 mm, the inner intercanthal distance was 63 mm, both upper margin reflex distances were − 1 mm, the myodynamia of the levator palpebrae muscle was 2 mm on the right and 3 mm on the left, and his visual acuity was 20/40 on the right and 20/32 on the left. A physical examination revealed the patient had developed limb deformities in his hands, wrists, elbows and shoulders along with hearing loss. The patient was diagnosed with Goldenhar syndrome because his clinical presentations included ocular hypertelorism, hearing loss, and multiple acral joint deformities. He underwent a first operation in 2009 and a second in 2015. The second operation achieved a satisfactory result in which the horizontal fissure length was 28 mm on both sides, both palpebral fissure height was 10 mm, the inner intercanthal distance was 30 mm, and both of the upper margin reflex distances were 4 mm. He continued to wear hearing aids as usual. His hearing loss and joint deformities were slated for long-term follow-up at his parents’ request.ConclusionThe patient, diagnosed with Goldenhar syndrome in association with blepharophimosis, ocular hypertelorism, hearing loss and limb deformities, underwent two operations and achieved a satisfactory result. The patient was submitted to long-term follow-up observations and symptomatic treatments that vary with age and systemic associations, as needed. When treating patients with Goldenhar syndrome, ophthalmology specialists should cooperate with a multi-disciplinary team of clinicians and reach agreement regarding the appropriate systemic and comprehensive treatments.

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Pränatale Diagnostik in der Urologie

Bahlmann

2016

Die Urologie

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Intrauterine death of a child with Goldenhar syndrome: a case presentation and review of the literature

Cited by 6 publications

References 7 publications

Prenatal diagnosis of multicystic dysplastic kidney disease in the second trimester screening

Prenatal diagnosis of multicystic dysplastic kidney disease in the second trimester screening

Goldenhar syndrome with blepharophimosis and limb deformities: a case report

Pränatale Diagnostik in der Urologie

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