Permanent tooth agenesis in non-syndromic Robin sequence and cleft palate: prevalence and patterns

Objectives: Partial tooth agenesis is frequently observed in Robin sequence. Tooth anomalies are increasingly considered as an extended phenotype of the cleft palate population. The study objective was to compare the prevalence and patterns of tooth agenesis in a group of patients with non-syndromic Robin sequence (ns-RS) and a group with non-syndromic cleft palate (ns-CP). Materials and methods: The panoramic radiographs of 115 ns-RS and 191 ns-CP patients were assessed for agenesis of the permanent dentition (excluding third molars) and the patterns recorded using the Tooth Agenesis Code. Results: Partial tooth agenesis was observed in 47.8% of ns-RS and 29.8% of ns-CP patients with a greater prevalence in the mandibula than in the maxilla, particularly in ns-RS. The teeth most frequently absent in both groups were the mandibular second premolars and maxillary lateral incisors. Tooth agenesis was bilateral in two-thirds of affected ns-RS patients and one-half of ns-CP patients. In ns-RS, bilateral agenesis of the mandibular second premolars was more frequently observed in female than that in male patients. Completely symmetrical patterns of hypodontia were found in around 45% of ns-RS patients with tooth agenesis compared to 35% in ns-CP. No association was found between the extent of the palatal cleft and the severity of hypodontia. Conclusion: Tooth agenesis is more prevalent in ns-RS than that in ns-CP, demonstrates a much greater predilection for the mandible in ns-RS, and bears no relation to the extent of the palatal cleft. Clinical relevance: When compared to ns-CP, additional developmental disturbances are likely involved in the etiology of tooth agenesis in ns-RS. Future research could help identify the underlying genetic traits and aid in classifying patients in those with and without expected tooth agenesis in order to facilitate orthodontic management strategies

Robin sequence: Continuing heterogeneity in nomenclature and diagnosis

Objective: Heterogeneity in both nomenclature and diagnostic criteria has hindered the interpretation of research into the congenital condition most widely known as (Pierre) Robin syndrome or sequence. In 2009, the discussion regarding its diagnosis and nosology was reopened to converge on a uniform eponym and standard set of diagnostic criteria. The objective of this study was to assess the impact of this debate. Materials and Methods: This is a retrospective review of the nomenclature and diagnostic criteria employed in studies about this condition that were indexed in the MEDLINE literature database (PubMed) and published during 2009 to 2016. Results: A total of 440 studies were retrieved of which the majority used the eponyms "Pierre Robin sequence" (62.0%) or "Robin sequence" (23.4%). During the study period, there was a significant shift toward the use of "sequence" in preference over "syndrome." Only 71.4% of studies mentioned their criteria for diagnosis, which remained heterogeneous throughout the study period. Conclusion: Since 2009, the debate has not produced a consensus eponym and standard diagnosis. This is unfortunate given the enduring controversies over the optimal management of a condition associated with a high morbidity and mortality. A renewed effort is needed to arrive at a workable consensus to enhance the retrievability of relevant literature and facilitate the interpretation of outcome studies

Microtia in the netherlands: Clinical characteristics and associated anomalies

Background: In Europe there have been few detailed reports on the clinical characteristics of microtia patient populations. The objective of the present study is to contribute to our insight of microtia in Europe by examining the Dutch microtia population treated in the University Medical Center Utrecht (UMCU) with regards to its clinical features and associated anomalies. In addition, an overview of the literature is provided for thorough comparison. Methods: A retrospective chart review was performed for all microtia patients referred to the UMCU for reconstructive surgery of the auricle over the period 1990-2012. Previous studies were identified by a systematic search of the electronic literature databases PubMed and Embase. In a subsequent meta-analysis the results from the literature review were pooled by geographical region to facilitate comparison. Results: A total of 204 microtia patients were referred for reconstructive surgery during 1990-2012. This group was characterized by a male predominance of 60.8%. Unilateral disease was observed in 91.7% of patients, affecting the right auricle in 66.3%. In unilateral patients lobule type microtia was seen in 59.9%, (small) concha type in 34.4% and anotia in 5.7%. The more frequent anomalies associated with microtia were atresia of the acoustic meatus (76.0%), preauricular skin tags (30.5%), hemifacial microsomia (27.5%), facial nerve paralysis (8.3%) and congenital heart disease (2.5%). Familial occurrence of microtia was reported for 2.0% of UMCU patients and for 10.0% of patients in the literature. Conclusion: The clinical characteristics of microtia in the Netherlands correspond to those reported for other patient populations in the literature. Most congenital anomalies associated with microtia in Dutch patients belong to the Oculo-Auriculo-Vertebral Spectrum. The considerable degree of familial microtia observed in the literature points to a substantial genetic component in the etiology of the condition. © 2014 Elsevier Ireland Ltd

Minimally Invasive Strip Craniectomy Simplifies Anesthesia Practice in Patients With Isolated Sagittal Synostosis

Background: Traditional open corrective surgery for isolated sagittal synostosis entails significant blood loss, transfusion rates, morbidity, and a lengthy hospitalization. Minimally invasive strip craniectomy (MISC) was introduced to avoid the disadvantages of open techniques. Objectives: The aim of the study was, first, to compare the anesthesia practice in MISC and open extended strip craniectomy (OESC), and, second, to evaluate the incidence of perioperative complications in both surgical procedures. Methods: A retrospective analysis was conducted for all consecutive patients receiving either OESC or MISC for nonsyndromic isolated sagittal synostosis between January 2006 and February 2014. The primary endpoints were the volume of blood loss, the volume of infused blood products, the duration of surgery, the anesthesia time, the intubation time, and the length of admission to high care units and the hospital. Results: In MISC, the median duration of surgery (90 versus 178 min.), anesthesia time (178 versus 291 min), and intubation time (153 versus 294 min) were all significantly (P < 0.001) shorter than in OESC. Intraoperative blood loss was less in MISC than in OESC (3.8 versus 29.7 mL/kg, P < 0.001), requiring less crystalloids (33.3 versus 76.9 mL/kg, P < 0.001) as well as less erythrocyte transfusions (0.0 versus 19.7 mL/kg, P < 0.001) in a smaller number of patients (2/20 versus 13/15). The improved hemodynamic stability in MISC allowed for placement of less arterial and central venous catheters. After OESC all 15 patients were admitted to high care units, compared with 9 of 20 in MISC. The overall median hospital stay was shorter in MISC than in OESC (4 versus 6 d, P < 0.001). Although the incidence of technical complications was similar in both techniques, patients in MISC were less affected by perioperative electrolyte and acid-base disturbances and postoperative pyrexia. Conclusions: Minimally invasive strip craniectomy simplifies anesthesia practice relative to OESC with shorter operative times, decreased needs for replacement fluids and blood products, lessened requirements for invasive monitoring, and reduced demands for postoperative high care beds

Permanent tooth agenesis in non-syndromic Robin sequence and cleft palate : prevalence and patterns

Objectives: Partial tooth agenesis is frequently observed in Robin sequence. Tooth anomalies are increasingly considered as an extended phenotype of the cleft palate population. The study objective was to compare the prevalence and patterns of tooth agenesis in a group of patients with non-syndromic Robin sequence (ns-RS) and a group with non-syndromic cleft palate (ns-CP). Materials and methods: The panoramic radiographs of 115 ns-RS and 191 ns-CP patients were assessed for agenesis of the permanent dentition (excluding third molars) and the patterns recorded using the Tooth Agenesis Code. Results: Partial tooth agenesis was observed in 47.8% of ns-RS and 29.8% of ns-CP patients with a greater prevalence in the mandibula than in the maxilla, particularly in ns-RS. The teeth most frequently absent in both groups were the mandibular second premolars and maxillary lateral incisors. Tooth agenesis was bilateral in two-thirds of affected ns-RS patients and one-half of ns-CP patients. In ns-RS, bilateral agenesis of the mandibular second premolars was more frequently observed in female than that in male patients. Completely symmetrical patterns of hypodontia were found in around 45% of ns-RS patients with tooth agenesis compared to 35% in ns-CP. No association was found between the extent of the palatal cleft and the severity of hypodontia. Conclusion: Tooth agenesis is more prevalent in ns-RS than that in ns-CP, demonstrates a much greater predilection for the mandible in ns-RS, and bears no relation to the extent of the palatal cleft. Clinical relevance: When compared to ns-CP, additional developmental disturbances are likely involved in the etiology of tooth agenesis in ns-RS. Future research could help identify the underlying genetic traits and aid in classifying patients in those with and without expected tooth agenesis in order to facilitate orthodontic management strategies