Goldenhar syndrome in association with agenesia of the internal carotid artery

Ottaviano, Giuseppina; Calzolari, F.; Martini, Alessandro

doi:10.1016/j.ijporl.2006.11.003

Cited by 31 publications

(24 citation statements)

References 13 publications

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“…[7][8][9][10] However, most cases of OAVS are sporadic and without a known etiology. Abnormal embryonic vascular supply, 11 hematomas, and drug use during the early phases of gestation have been reported to cause the disruption of mesodermal migration, leading to defective formation of bone and soft-tissue structures. 12 Most interesting, a few case reports and small series studies have shown a concomitant impairment of cranial nerves (CNs), [13][14][15][16][17][18][19][20][21][22][23][24][25][26] highlighting the possible involvement of neural struc-tures in OAVS and addressing its potentially relevant clinical impact.…”

mentioning

confidence: 99%

Cranial Nerve Abnormalities in Oculo-Auriculo-Vertebral Spectrum

Manara

Brotto²,

Ghiselli³

et al. 2015

American Journal of Neuroradiology

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BACKGROUND AND PURPOSE:Cranial nerve abnormalities might be observed in hemifacial microsomia and microtia (oculo-auriculovertebral spectrum), but the rate, features, and relationship with functional impairment or phenotype severity have not yet been defined. This study aimed at investigating absence/asymmetry, abnormal origin, morphology and course of cranial nerves, and presence/asymmetry of the foramen ovale and inferior alveolar nerve canal in a cohort of oculo-auriculo-vertebral spectrum patients.

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mentioning

confidence: 99%

Cranial Nerve Abnormalities in Oculo-Auriculo-Vertebral Spectrum

Manara

Brotto²,

Ghiselli³

et al. 2015

American Journal of Neuroradiology

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“…[13] Thus, in some cases of insertion of microvascular transplants for facial recontouring, recipient facial vessels failed to be located. [14] Agenesia or malformation of the internal carotid artery has been described in a few cases, on the unilateral side [15,16] as well as the contralateral. [17] Additionally, absent pharyngeal arch artery derivates have been described in a 19-week old fetus [18] and absence of the portal vein was described in a patient with Goldenhar syndrome.…”

Section: Discussionmentioning

confidence: 99%

Hyperbaric oxygen treatment of unexpected mandibular bone necrosis after orthognathic surgery in a patient with hemifacial microsomia

Vedtofte¹,

Jansen²,

Forner³

2014

J Cranio Max Dis

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Hemifacial microsomia is a congenital disorder occurring in 1:5600, characterized by unilateral underdevelopment of the lower half of the face. It is primarily a syndrome of the first branchial arch. Patients with first branchial arch syndromes may also have cardiovascular defects. A 23-year-old female patient with hemifacial microsomia had undergone surgery, with the purpose of correcting her dental occlusion and to diminish snoring and facilitate breathing. After orthodontic correction, osteotomies of the maxilla and mandibula were planned. Shortly before the planned surgery, the patient experienced apoplexia. The patient underwent Le Fort I osteotomia and insertion of osteosynthesis plates. Two months after surgery, the occlusion was altered, indicating a dislocation of the osteosynthesis material and mandibular fracture, which was confirmed radiologically. During the following replacement of osteosynthesis material, the lateral part of the mandibular cortex showed comprehensive necrosis, and a large sequestrum was removed. Some weeks later, a large skin necrosis developed adjacent to the extaoral incision, and the patient was referred to the HBO unit. The patient was then treated with 28 hyperbaric oxygen exposures. After hyperbaric treatment, the patient healed completely. At a surgical intervention more than 1 year later, the osteosynthesis material was still osseointegrated. Although insufficient vascularity and consequent necrosis may not be expected in the mandible of a patient with hemifacial microsomia, attention should be drawn to the fact that facial vessels may also be underdeveloped. Hyperbaric oxygen may be considered as a treatment option in similar cases.

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“…Cystic eye is supposed to derive from a failure in the involution of the primary optic vesicle that leads to the formation of an orbital cyst, filled by proliferating glial tissue, that replaces the eye (anophthalmia) (Gupta et al, 2003). This is the first time that such an association has been described, although the coexistence of the condition with additional findings not included in the classical spectrum had been previously reported: occipital meningoencephalocele (Kita et al, 2002), right pulmonary agenesis with ipsilateral microtia (Milani and Selicorni, 2002), agenesia of the internal carotid artery (Ottaviano et al, 2007) and VATER syndrome (Kallen et al, 2004).…”

mentioning

confidence: 87%

Prenatal sonographic imaging of Goldenhar syndrome associated with cystic eye

Ghi¹,

Contro²,

Carletti³

et al. 2008

Prenatal Diagnosis

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The application of nanolayered inorganic materials as supports for immobilizing biomolecules has attracted attention because the host structures not only have “flexible pores” to adapt to the size of the biomolecule guests but they also protect the immobilized biomolecules from disturbances created by environmental variations. In this paper, layered titanate sheets (TNSs) were used as support matrixes for immobilizing myoglobin (Mb) to fabricate protein electrodes suitable for studying the direct electron transfer between the redox centers of proteins and the electrode and establish an example of a mediator‐free (third‐generation) biosensor. The uniform, porous morphology and ordered structure of the protein electrode were characterized by scanning electron microscopy, high‐resolution transmission electron microscopy, and X‐ray diffraction. The native structure of the intercalated Mb was maintained in the TNSs, and its behavior was characterized by UV‐vis and Fourier‐transform IR spectroscopy. Immobilized Mb in TNS films showed a fast direct electron transfer for the Mb–FeIII/FeII redox couple. Based on the direct electron transfer of the immobilized Mb, the protein electrode exhibited excellent catalytic performance for H2O2. Furthermore, in order to improve the stability of immobilized Mb in the TNS films, the thermal stability of the protein electrode and its electrochemical catalytic reduction of H2O2 in a low pH environment were discussed.

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Goldenhar syndrome in association with agenesia of the internal carotid artery

Cited by 31 publications

References 13 publications

Cranial Nerve Abnormalities in Oculo-Auriculo-Vertebral Spectrum

Cranial Nerve Abnormalities in Oculo-Auriculo-Vertebral Spectrum

Hyperbaric oxygen treatment of unexpected mandibular bone necrosis after orthognathic surgery in a patient with hemifacial microsomia

Prenatal sonographic imaging of Goldenhar syndrome associated with cystic eye

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