Anesthetic Challenges in an Adult with Pierre Robin Sequence, Severe Juvenile Scoliosis, and Respiratory Failure

Rymer, Alyse N.; Porteous, Grete H.; Neal, Joseph M.

doi:10.1213/xaa.0000000000000186

Cited by 2 publications

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References 11 publications

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“…PRS is most commonly associated with hearing loss, dysmorphic facial features, global developmental delay/ intellectual disability, and/or congenital heart defects [4]. Spinal pathologies have rarely been reported in association with PRS, often co-occurring with other congenital anomalies [6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21][22]. The molecular genetic and clinical characteristics of spinal disease in PRS remain poorly characterized.…”

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confidence: 99%

Clinical and genetic characterization of patients with Pierre Robin sequence and spinal disease: review of the literature and novel terminal 10q deletion

et al. 2020

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Introduction The Pierre-Robin sequence (PRS) is a pattern of congenital facial abnormalities comprising micrognathia, glossoptosis, and airway obstruction. Associated spinal pathologies have rarely been reported with PRS. Methods We explore the molecular genetic basis of this association through a systematic review of spinal disease in patients with PRS. We also present an illustrative case of a PRS patient with tethered cord in the setting of chromosome 10q terminal deletion. Results Our systematic literature review of spinal disease in patients with PRS revealed several patterns in the underlying genetic syndromes causing these conditions to co-occur. These principles are illustrated in the case of a 6-month-old female with PRS and a 14.34-Mb terminal deletion of chromosome 10q, who was found to have a sacral dimple during a routine outpatient checkup. Magnetic resonance imaging of the spine revealed a lumbar syrinx associated with tethered spinal cord. Surgical detethering was undertaken, with subsequent improvement in motor function and decrease in the size of the syrinx. The deletion of chromosome 10q in our patient had not previously been described in association with tethered cord or PRS. Conclusion Spinal pathologies are understudied contributors to disease burden in patients with PRS. The range of predisposing syndromes and mutations in patients with both PRS and spinal disorders remains poorly characterized but may be more defined than previously conceived. Clinical screening is most critical during neonatal and adolescent developmental periods with continued neurological assessment. This study emphasizes the need for early genetic testing and counseling in this patient population, in parallel with research efforts to develop molecular classifications to guide clinical management.

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Section: Introductionmentioning

confidence: 99%

Clinical and genetic characterization of patients with Pierre Robin sequence and spinal disease: review of the literature and novel terminal 10q deletion

et al. 2020

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Pierre Robin sequence with severe scoliosis in an adult: A case report of clinical and radiological features

et al. 2019

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In 1923, the dentist Pierre Robin described a disorder characterized as a triad of micrognathia, glossoptosis, and airway obstruction. 1 This disorder, now known as Pierre Robin sequence (PRS), has received much attention in dentistry due to its relationship with anomalies in the maxillofacial area. PRS does not always have a single pathogenesis, but rather is often associated with various syndromes. 2 Izumi el al. 3 found that 60% of cases of PRS were associated with another syndrome, while 40% were isolated. Cerebro-costo-mandibular syndrome (CCMS) is a PRSrelated syndrome associated with rib anomalies characterized by posterior rib gap defects. 4-6 Since the first report of CCMS by Smith et al. 4 in 1966, over 80 cases have been reported to date. 5 In addition to PRS and multiple rib gaps, scoliosis is a common feature of CCMS. The heart, the kidneys, hearing ability, and intelligence are also affected in some patients with CCMS. 7 Because the most consistent features of CCMS are associated with the hard tissues of the maxillofacial and thoracic vertebral area, radiographic evaluation, such as thoracic computed tomography, posteroanterior (PA) chest radiography, lateral cephalograms, and cone-beam computed tomography (CBCT), is required for the diagnosis and treatment planning of CCMS. The patient in this report was suspected of having CCMS because she had PRS and severe scoliosis. However, no posterior rib gap defects were observed on PA chest radiography. Therefore, the authors could not make a definitive diagnosis of CCMS. Although many reports have been published on CCMS, few cases of PRS with scoliosis alone have been reported. 8 This case report presents the clinical and radiological features of an adult patient with PRS and severe scoliosis, but without rib anomalies.

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Anesthetic Challenges in an Adult with Pierre Robin Sequence, Severe Juvenile Scoliosis, and Respiratory Failure

Cited by 2 publications

References 11 publications

Clinical and genetic characterization of patients with Pierre Robin sequence and spinal disease: review of the literature and novel terminal 10q deletion

Clinical and genetic characterization of patients with Pierre Robin sequence and spinal disease: review of the literature and novel terminal 10q deletion

Pierre Robin sequence with severe scoliosis in an adult: A case report of clinical and radiological features

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