Pierre Robin sequence (PRS) is classically described as a triad of micrognathia, glossoptosis, and airway obstruction. Infants frequently present at birth with a hypoplastic mandible and difficulty breathing. The smaller mandible displaces the tongue posteriorly, resulting in obstruction of the airway. Typically, a wide U-shaped cleft palate is also associated with this phenomenon. PRS is not a syndrome in itself, but rather a sequence of disorders, with one abnormality resulting in the next. However, it is related to several other craniofacial anomalies and may appear in conjunction with a syndromic diagnosis, such as velocardiofacial and Stickler syndromes. Infants with PRS should be evaluated by a multidisciplinary team to assess the anatomic findings, delineate the source of airway obstruction, and address airway and feeding issues. Positioning will resolve the airway obstruction in ~70% of cases. In the correct position, most children will also be able to feed normally. If the infant continues to show evidence of desaturation, then placement of a nasopharyngeal tube is indicated. Early feeding via a nasogastric tube may also reduce the amount of energy needed and allow for early weight gain. A proportion of PRS infants do not respond to conservative measures and will require further intervention. Prior to considering any surgical procedure, the clinician should first rule out any sources of obstruction below the base of the tongue that would necessitate a tracheostomy. The two most common procedures for treatment, tongue-lip adhesion and distraction osteogenesis of the mandible, are discussed.
Sagittal synostosis has been successfully managed with numerous surgical techniques. Nevertheless, few data on long-term outcomes exist to justify use of one surgical technique over another. In this study, we compared children with surgically corrected sagittal synostosis to their age-matched control subjects to assess the longevity of their corrections. Furthermore, the outcomes of open repairs were compared with endoscopic repairs.Following institutional review board approval, three-dimensional photographs of patients who underwent surgical reconstruction for nonsyndromic sagittal synostosis were analyzed to determine biparietal and anterior-posterior diameter, circumference, cephalic index, cranial vault volume, cranial height, and forehead inclination. Thirteen patients who had undergone open repair, including 6 total cranial vault and 7 modified-pi reconstructions, and 6 patients who had undergone endoscopic strip craniectomy with barrel-stave osteotomies and postoperative helmeting were compared with nonsynostotic age-matched control subjects. Mean follow-up was 97.5 months after open and 48.9 months after endoscopic repair. Student t tests were used for analysis. In the second arm of this study, 33 patients who had undergone endoscopic repair were compared with the 13 patients who had undergone open repair; mean follow-up was 24.8 months after endoscopic repair. Linear regression models were used to adjust for age and sex.After comparing three-dimensional photographs of children who were more than 3 years postoperative from surgical correction for sagittal synostosis with their age-matched control subjects, no statistically significant differences were found in any of the measured parameters. In addition, no differences were detected between open reconstruction versus endoscopic repair, suggesting equivalence in final results for both procedures.
Neurofibromatosis type 1 (NF1) is a common autosomal dominant neurologic condition characterized by significant clinical heterogeneity, ranging from malignant cancers to cognitive deficits. Recent studies have begun to reveal rare genotype-phenotype correlations, suggesting that the specific germline NF1 gene mutation may be one factor underlying disease heterogeneity. The purpose of this study was to define the impact of the germline NF1 gene mutation on brain neurofibromin function relevant to learning. Herein, we employ human NF1-patient primary skin fibroblasts, induced pluripotent stem cells and derivative neural progenitor cells (NPCs) to demonstrate that NF1 germline mutations have dramatic effects on neurofibromin expression. Moreover, while all NF1-patient NPCs exhibit increased RAS activation and reduced cyclic AMP generation, there was a neurofibromin dose-dependent reduction in dopamine (DA) levels. Additionally, we leveraged two complementary Nf1 genetically-engineered mouse strains in which hippocampal-based learning and memory is DA-dependent to establish that neuronal DA levels and signaling as well as mouse spatial learning are controlled in an Nf1 gene dose-dependent manner. Collectively, this is the first demonstration that different germline NF1 gene mutations differentially dictate neurofibromin function in the brain.
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