Mayer-Rokitansky-Küster-Hauser Syndrome Associated with a Urogenital Sinus Anomaly in a 4-Year-Old Child: Report of a Case

Adam, Ahmed; Ebrahim, Zaeem I.; Engelbrecht, Matthys J.; Heerden, I.J. van; Moshokoa, Evelyn

doi:10.1159/000189693

Cited by 2 publications

(1 citation statement)

References 4 publications

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“…1,10 Varies according to age of the patient: Between 2 and 4 years, no treatment is necessary for patients who are mildly affected. Reconstruction by rib bone graft and lengthening of underdeveloped mandible by a bone distraction device is recommended in severe underdeveloped mandible, modifications in the growth of teeth are done with the assistance from orthodontics.…”

Section: Discussionmentioning

confidence: 99%

Goldenhar Syndrome: Case Report

2015

IJSS j of Surgery

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Goldenhar syndrome or fascio-auriculo-vertebral dysplasia or oculo-auriculo-vertebral syndrome is a sporadic or autosomal dominant inherited genetic rare syndrome characterized by mandibular hypoplasia, facial asymmetry, low set ear or atresia of ear canal, preauricular skin tags, hemi vertebra in cervical region, epibulbar dermoid, coloboma of upper eyelid, limb dermoids, cardiac abnormalities and other systemic abnormalities includes facial involvement, predisposing to the right side or there may be a more complex phenotypic abnormality with the skeletal, cardiac, renal and pulmonary systems. Central nervous system involvement are common with these patients, particularly there are higher chances with ophthalmologic anomalies. 50% of the patients with Goldenhar would have either conductive and/or sensorineural hearing loss. This case report describes a typical 40-year-old female patient who presented to the hospital with auricular abnormality and diminished hearing and was found to have the fascioauriculo-vertebral dysplasia spectrum of this syndrome and hypothyroidism. Diagnosis was based principally on clinical aspects. Radiology, laboratory fi ndings, otorhinolaryngologic evaluations were important in reaching a defi nitive diagnosis. Management depends on the patient's age and systemic clinical manifestations, with a multidisciplinary approach often being required.

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Section: Discussionmentioning

confidence: 99%

Goldenhar Syndrome: Case Report

2015

IJSS j of Surgery

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Bladder hamartoma: A unique cause of urinary retention in a child with goldenhar syndrome

Adam¹,

Gayaparsad²,

Engelbrecht³

et al. 2013

Saudi J Kidney Dis Transpl

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The bladder hamartoma is an extremely rare entity. We report on its presence in a 5-year-old boy with Goldenhar syndrome. Most probably, this is the first report of a bladder hamartoma presenting with obstruction of the bladder outlet resulting in urinary retention. The obstructive lesion was resected endoscopically. This proved to be curative for the lesion, since the follow-up voiding cysto-urethrogram revealed only a negligible post-void residual volume. Although urogenital anomalies have a well-known correlation with the Goldenhar syndrome, the existence of the bladder hamartoma found in association with this syndrome, according to the best of our knowledge, has not been previously reported in the world literature. With this report being only the 11 th described case of bladder hamartoma, we highlight on the management options for this exceptional histological finding. The incidence, screening, treatment decisions and important urogenital associations of the Goldenhar syndrome are also discussed.

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Mayer-Rokitansky-Küster-Hauser Syndrome Associated with a Urogenital Sinus Anomaly in a 4-Year-Old Child: Report of a Case

Cited by 2 publications

References 4 publications

Goldenhar Syndrome: Case Report

Goldenhar Syndrome: Case Report

Bladder hamartoma: A unique cause of urinary retention in a child with goldenhar syndrome

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