Presentation and Treatment of a Patient With Jacobs Syndrome and Metopic Craniosynostosis.

Jacobs syndrome is a rare trisomy (47, XYY) found in ~1 in 1000 male children associated with infertility, autism spectrum disorders, macrocephaly, hypertelorism, tall stature, and macroorchidism. Diagnosis is often delayed due to relatively subtle phenotypic changes. Craniosynostosis, a fusion of the cranial sutures, has been described in ~1 in 2000 live births, of which 25% are related to a diagnosed syndrome with the most common being Apert and Crouzon. Craniosynostosis does not have a known association with Jacobs syndrome and no prior cases have been reported. This case report seeks to describe the presentation and treatment of a patient with Jacobs syndrome and metopic craniosynostosis.

A case report: resolution of Chiari I malformation after helmet therapy for deformational brachycephaly.

Positional plagiocephaly is the most common cause of cranial asymmetry. Deformational brachycephaly denotes a head shape characterized by occipital flattening and increased bilateral width, which can also be caused by external deformation of the moldable infant cranium in positional bilateral posterior plagiocephaly. There are reports of craniosynostosis associated with Chiari I malformation (CIM), possibly caused by decreased posterior fossa volume and related to increased intracranial pressure. To the best of our knowledge, this is only the second case report demonstrating acquired CIM in a child with positional brachycephaly. Of note, the fact that the CIM resolved after helmet therapy could support the hypothesis that CIM is associated with decreased volume of the posterior fossa. However, these two conditions may be independent of one another. More research is needed to identify an association between the two conditions.

Consistency of Cranial Shape Measures Obtained From Laser Surface and Computed Tomography Imaging.

OBJECTIVE: Children with cranial shape abnormalities are often subjected to radiation from computed tomography (CT) for evaluation and clinical decision making. The STARscanner Laser Data Acquisition System (Orthomerica, Orlando, FL) may be a noninvasive alternate. The purpose of this study is to determine whether the STARscanner provides valid and accurate cranial measurements compared to CT. DESIGN: We performed an institutional review board-approved retrospective review of a prospectively maintained database of patients with metopic suture abnormalities from 2013 to 2016. SETTING: Plastic surgery clinic in an institutional tertiary care center. PATIENTS: Eight patients were included that presented with metopic suture abnormalities, age less than 1 year, and CT and STARscanner imaging within 30 days of one another. MAIN OUTCOME MEASURES: Cranial measurements were collected twice from 3 scan types: STARscanner, CT windowed for soft tissue, and CT windowed for bone. Measurements included: intracranial volume, height, base width, maximum antero-posterior length, maximum medio-lateral width, and oblique diameters. Nested analysis of variance were performed to determine the proportion of error attributable to: between-subject variance, scan type, and rater. RESULTS: Measurements from STARscanner and both CT scans windows were highly consistent, with less than 1% of total error attributable to scan type for all measures. CONCLUSIONS: Cranial shape measurements obtained from STARscanner images are highly consistent with those obtained from CT scans. The STARscanner has added benefits of speed of acquisition, minimal cost, and lack of radiation.

Odontogenic Cysts and Tumors.

Odontogenic cysts and tumors are mandibular and maxillary lesions that occur across all patient demographics across age, sex, race, and social economic status, as altered remnants of dental development. They may be incidental findings from routine imaging in any office or found through workup for craniofacial surgery or injury. Many of these patients present with asymptomatic lesions, whereas others may be symptomatic. In this article, we review the literature on the most common odontogenic tumors and cysts and discuss their presentation, their defining traits, and how to approach diagnosis and definitive management.

Relationship of a Metopic Ridge and Anterior Cranial Volume Measured by a Noninvasive Laser Shape Digitizer.

Cranial dysmorphology observed in patients with metopic craniosynostosis varies along a spectrum of severity including varying degrees of metopic ridging, bitemporal narrowing, and trigonocephaly. Management has been based upon the subjective clinical impression of presence and severity of trigonocephaly. Severity of cranial dysmorphology does not predict the occurrence or severity of associated abnormal neurodevelopment, as children with mild-to-moderate trigonocephaly may also experience developmental delays. The authors sought to determine the relationship between mild-to-moderate trigonocephaly and anterior cranial volume using a noninvasive laser shape digitizer (STARscanner) in patients with abnormal head shape.An IRB-approved retrospective review of a prospectively maintained database and medical records was performed. Two hundred three patients less than 1 year of age with abnormal head shape were categorized as having a metopic ridge with mild-to-moderate trigonocephaly, metopic ridge without trigonocephaly, or no ridge. Measurements of cranial volume, circumference, and symmetry were calculated by the STARscanner, which quantifies three-dimensional shape of the cranial surface. Measures were analyzed using a series of analyses of variance and post-hoc Tukey honest significant difference.The authors results showed ACV was significantly reduced in patients with mild-to-moderate trigonocephaly compared with those without metopic ridge (P = 0.009), and trended toward significance compared with those with a ridge but without trigonocephaly (P = 0.072). The ratio of anterior-to-posterior cranial volume was significantly reduced in those with mild-to-moderate trigonocephaly compared with those without metopic ridge (P = 0.036).In conclusion, patients with milder anterior cranial deformities demonstrated an association between a metopic ridge with mild-to-moderate trigonocephaly and reduced anterior cranial volume.

Traumatic Fracture of the Premaxilla in the Bilateral Cleft Patient.

Traumatic fracture of the premaxilla is a rare event, and there is minimal data regarding the presentation, management, and outcome of these patients. This article reports 2 patients with bilateral cleft lip and palate who each presented with traumatic fracture and displacement of the premaxilla. To authors' knowledge, the occurrence and management of a traumatic fracture and displacement of the premaxilla in a patient with cleft lip and palate has not been reported.

Use of the On-Q Pain Pump in Alveolar Bone Grafting: Effect on Hospital Length of Stay.

OBJECTIVE: Alveolar bone grafting (ABG) with iliac crest bone graft can be associated with significant pain at the donor site. The On-Q pain pump has been shown to be efficacious in treating postsurgical pain. The aim of this study was to compare the length of postoperative hospital stay in patients undergoing ABG who received the On-Q pain pump at the iliac crest donor site (On-Q+) with that of patients who did not receive the On-Q pain pump (On-Q-). DESIGN: A retrospective, cohort study, approved by institutional review board, was performed. Thirty-one consecutive patients in the On-Q- group were compared with 38 consecutive patients in the On-Q+ group. The two cohorts were assessed for length of stay. Statistical analysis was performed using the Fisher exact probability test. SETTING: Tertiary care academic medical center. PATIENTS: Sixty-nine patients with cleft lip and/or cleft palate (CL/P) undergoing secondary ABG with iliac crest bone graft were operated on between May 1993 and January 2014. MAIN OUTCOME MEASURE: Length of postoperative hospital stay. RESULTS: Mean length of stay in the On-Q- patients was 0.52 days versus 0.37 days for the On-Q+ patients. This difference between the two cohorts was not statistically significant (P = .234). CONCLUSION: Although there is a trend toward a shorter length of stay in our patients who received the On-Q pump, this finding was not statistically significant. Given the expense and additional burden of care associated with the device, we have become more selective in its utilization.

Evaluating Children With Metopic Craniosynostosis: The Cephalic Width-Intercoronal Distance Ratio.

OBJECTIVE: To identify an additional objective measure to aid in the evaluation of children with isolated metopic craniosynostosis. DESIGN: This is a retrospective study comparing specific computed tomography scan measurements between surgical and nonsurgical cohorts of children with isolated metopic craniosynostosis. Children were included if they were diagnosed with isolated metopic craniosynostosis and ultimately underwent computed tomography scan imaging as part of their evaluation. The subjects were placed in the surgical or nonsurgical cohorts on the basis of the final treatment recommendation after they completed a full multidisciplinary, multimodality evaluation. Comparisons were made with a control group of unaffected patients from our institutional trauma registry. SETTING: Tertiary academic institution. PATIENTS, PARTICIPANTS: The subjects are patients who had been previously evaluated in our clinic for isolated metopic craniosynostosis and received a computed tomography scan as part of their workup. RESULTS: The average intercoronal distances were significantly different among all three groups (P < .002). The average cephalic width-intercoronal distance ratio for children who received a recommendation for surgery differed significantly from that of both the observation cohort and the control group (P < .001). However, the cephalic width-intercoronal distance ratio did not differ between the observation cohort and the control group (P = .927). CONCLUSIONS: The cephalic width-intercoronal distance ratio may be an additional objective measurement to aid in the clinical evaluation of children with metopic craniosynostosis.

Incidence of Amblyopia and Its Risk Factors in Children With Isolated Metopic Craniosynostosis.

OBJECTIVE: Ophthalmic abnormalities in children with syndromic craniosynostosis have been reported previously, and referral of these children to a pediatric ophthalmologist is recommended. However, it is not as clear whether a child with nonsyndromic synostosis needs to be referred to a pediatric ophthalmologist. The aim of this study is to report the incidence of amblyopia and its risk factors in children with isolated metopic craniosynostosis. DESIGN: An institutional review board-approved, retrospective review was performed on 91 children diagnosed with isolated metopic craniosynostosis. Ophthalmologic records were reviewed for diagnoses of amblyopia, strabismus, and refractive error. RESULTS: Of the 91 children, 19 (20.9%) had astigmatism, eight (8.8%) had amblyopia, eight (8.8%) had strabismus, five had myopia (5.5%), five had hyperopia (5.5%), and five had anisometropia (5.5%). The incidence of amblyopia and its risk factors found in our study are higher than the rate found in the clinically normal pediatric population. CONCLUSIONS: In our patient population, children with isolated metopic craniosynostosis demonstrate an increased rate of amblyopia and its risk factors. Amblyopia is best treated early in life to achieve a successful outcome. A referral to a pediatric ophthalmologist for a formal eye exam and potential treatment is therefore recommended for children with isolated metopic craniosynostosis.

Does the use of particulate bone graft increase the incidence of postoperative infection in surgery for craniosynostosis?

OBJECTIVE: The use of particulate bone graft (PBG) has become an accepted technique for filling cranial defects created during cranial vault expansion for craniosynostosis. However, the use of PBG may be a risk factor for postoperative infection. The aim of this study was to compare the rate of postoperative infection in patients who received particulate bone graft (PBG+) with that in patients who did not (PBG-). DESIGN: An Institutional Review Board-approved, retrospective, cohort study of consecutive patients was performed. Twenty-seven consecutive patients in the PBG- group were compared with 21 consecutive patients in the PBG+ group. The two cohorts were assessed for incidence of surgical-site infection. RESULTS: Statistical analysis was performed using the Fisher exact probability test. Surgical site infection occurred in none of the PBG- patients (0%) versus one of the PBG+ patients (4.76%). This difference in infection rates between the two cohorts was not statistically significant (P = .4375). CONCLUSIONS: Although there may be concern that PBG could serve as a facilitative medium for bacterial growth, this study demonstrates no statistically significant increase in infection rates with its use. Particulate bone grafting of cranial defects resulting from cranial vault expansion in craniosynostosis remains a useful and valuable technique.

Incidence of Amblyopia and Its Risk Factors in Children With Isolated Metopic Craniosynostosis.

OBJECTIVE: Ophthalmic abnormalities in children with syndromic craniosynostosis have been reported previously, and referral of these children to a pediatric ophthalmologist is recommended. However, it is not as clear whether a child with nonsyndromic synostosis needs to be referred to a pediatric ophthalmologist. The aim of this study is to report the incidence of amblyopia and its risk factors in children with isolated metopic craniosynostosis. DESIGN: An institutional review board-approved, retrospective review was performed on 91 children diagnosed with isolated metopic craniosynostosis. Ophthalmologic records were reviewed for diagnoses of amblyopia, strabismus, and refractive error. RESULTS: Of the 91 children, 19 (20.9%) had astigmatism, eight (8.8 %) had amblyopia, eight (8.8%) had strabismus, five had myopia (5.5%), five had hyperopia (5.5%), and five had anisometropia (5.5%). The incidence of amblyopia and its risk factors found in our study are higher than the rate found in the clinically normal pediatric population. CONCLUSIONS: In our patient population, children with isolated metopic craniosynostosis demonstrate an increased rate of amblyopia and its risk factors. Amblyopia is best treated early in life to achieve a successful outcome. A referral to a pediatric ophthalmologist for a formal eye exam and potential treatment is therefore recommended for children with isolated metopic craniosynostosis.

Normocephalic pancraniosynostosis.

Normocephalic pancraniosynostosis is a rare variant of craniosynostosis associated with delayed presentation and elevated intracranial pressure. We present 2 cases of normocephalic pancraniosynostosis highlighting the common clinical course, radiographic findings, and intraoperative findings seen in children with normocephalic pancraniosynostosis.

A practical correction of great toe claw deformity.

Ischemic contracture of the leg causing clawing of the toes is a known complication of compartment syndrome of the leg. Although a substantial amount of published data are available on the prevention and acute management of compartment syndrome, a relative paucity of data has been published on the optimal management of the resultant claw toe deformity. In the present case report, the operative management of a patient with left great toe clawing secondary to ischemia is described. Surgical management included lengthening of the extensor hallucis longus tendon and transfer of the extensor hallucis brevis tendon to the extensor hallucis capsularis, with percutaneous pinning of the great toe.

Prenatal counseling's effect on rates of neonatal intensive care admission for feeding problems cleft lip/palate infants.

Prenatal counseling and feeding instruction is standard at our institution for parents of cleft lip and palate patients. We studied this intervention's effect on Neonatal Intensive Care Unit (NICU) admission solely for feeding. Ten percent (2/20) of patients whose parents received counseling were admitted to the NICU for feeding issues alone compared to 21% (5/24) of the non-counseling group. Prenatal counseling and feeding instruction appears to decrease NICU admission, duration and health care costs.

Pierre Robin and breathing: What to do and when?

Robin sequence is characterized by mandibular retrognathia, airway obstruction, and glossoptosis; 80%-90% also have a cleft palate. Various treatment approaches exist, and although controlled studies are rare, objective assessment of treatment outcomes that address the leading clinical issues, namely obstructive sleep apnea and failure to thrive, are essential. Sleep-disordered breathing may be detected using cardiorespiratory polygraphy or polysomnography. Pulse oximetry alone may miss infants with frequent obstructive apneas, yet no intermittent hypoxia. Among conservative treatment options, the Tubingen Palatal Plate with a velar extension shifting the tongue base forward is the only approach that corrects the underlying anatomy and that has undergone appropriate evaluation. Of the surgical treatment options, which are not necessarily the first line of therapy, mandibular distraction osteogenesis (MDO) is effective and has been most extensively adopted. Notwithstanding, it is puzzling that MDO is frequently used in some countries, yet hardly ever in others, despite similar tracheostomy rates. Thus, prospective multicenter studies with side-by-side comparisons aimed at identifying an optimal treatment paradigm for this potentially life-threatening condition are urgently needed.

Dexmedetomidine controls the hemodynamic manifestations of tourniquet pain.

Dexmedetomidine is an α2-adrenergic agonist that is Food and Drug Administration-approved for the provision of short-term (less than 24 hours) sedation of adults during mechanical ventilation. Given its beneficial physiological effects, including sedation and anxiolysis, various applications have been reported in the perioperative period. We report the use of dexmedetomidine to control the hemodynamic consequences of tourniquet pain in three patients having either orthopedic or plastic surgical procedures requiring the use of tourniquets. In all cases, dexmedetomidine controlled the hemodynamic responses to tourniquet pain, including tachycardia and hypertension. The use of dexmedetomidine in this scenario is discussed, and its potential advantages over other agents, including opioids, are reviewed.

Unilateral frontosphenoidal craniosynostosis with achondroplasia: a case report.

Isolated, premature fusion of the frontosphenoidal suture is rare. This report describes an unusual combination of frontosphenoidal craniosynostosis and achondroplasia. Although craniosynostosis is known to occur in allelic conditions such as thanatophoric dysplasia, craniosynostosis in individuals with achondroplasia is exceedingly rare. Due to the distracting diagnosis of achondroplasia or inadequate knowledge of craniosynostosis, the abnormal head shape was initially treated by other physicians with helmet molding. Plastic surgery consultation was obtained at 2 years of age and surgical care was provided. An acceptable head shape was obtained, but the delay in appropriate evaluation was disconcerting. To our knowledge this is the first reported case of isolated frontosphenoidal craniosynostosis associated with achondroplasia.

Sero-epidemiology and risk factor analysis of human brucellosis in Punjab, Pakistan: a cross sectional study.

Human brucellosis is a neglected zoonotic problem worldwide with a high degree of morbidity in humans and is mostly overlooked due to other febrile conditions. The aim of this study was to evaluate the sero-prevalence and risk factors of human brucellosis among subjects living in Punjab, Pakistan. In this cross-sectional study, human blood samples were collected from seven districts of Punjab, Pakistan. Information regarding personal data, demographic data and potential risk factors was collected through a structured questionnaire. Detection of anti-Brucella antibodies was done through Rose Bengal Plate Test (RBPT) and Enzyme Linked Immunosorbent Assay (ELISA). Descriptive analysis, Chi square test and Odds ratio was applied using STATA software version 12. The sero-prevalence of human brucellosis was 13.13% with significantly higher percentage in males 17.23% and age group 25-40 years 16.50% (P=< 0.001). The demographic factors positively associated with human brucellosis were lack of education (P = 0.003; OR = 1.85) and farming as an occupation (P =<0.001; OR = 2.50) Similarly, among the risk factors studied, keeping animals at home (P =<0.001; OR = 2.03), slaughtering of animals (P =<0.001; OR = 15.87) and consuming raw milk (P =<0.001; OR = 5.42) were the factors strongly connected with human brucellosis. A massive awareness should be given to livestock farmers and individuals directly linked to animals regarding risk factors and transmission of brucellosis. Consumption of unpasteurized milk and its products should be condemned to curtail this neglected disease.