A Comparison of Weight Gain Following Mandibular Distraction Osteogenesis and Tongue-Lip Adhesion in the Treatment of Robin Sequence.

ABSTRACT: Obstructive respiratory stress and feeding difficulties in infants with Robin sequence (RS) may result in poor weight gain or loss. Following failure of conservative treatment, surgical options include mandibular distraction osteogenesis (MDO) and tongue-lip adhesion (TLA). Whilst both techniques have demonstrated to improve airway patency and feeding behavior, an advantage of either in restoring weight growth remains unknown. This study aimed to improve procedural selection by examining weight gain following MDO and TLA. A retrospective chart review was performed for 17 RS patients that had undergone MDO and 25 that had received TLA. The mean body weight in both groups was below the 50th population percentile at birth and fell further in the period before surgery. A mixed model analysis demonstrated that postoperative weight gain depended on the progression of time and preoperative weight. Conversely, biological sex, congenital comorbidities, method of feeding, the respective cleft team, and the type of surgery did not significantly influence the evolution of postoperative body weight. In conclusion, both MDO and TLA were able to restore weight growth in infants affected by RS, though a clear superiority of either technique could not be established.

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.

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.

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.

Etiology and pathogenesis of robin sequence in a large Dutch cohort.

Robin sequence (RS) can be defined as the combination of micrognathia and upper airway obstruction/glossoptosis causing neonatal respiratory problems, with or without a cleft palate and either isolated or non-isolated. Pathogenesis varies widely. We hypothesize that optimal treatment depends on pathogenesis and therefore patients should be stratified according to diagnosis. Here, we evaluate diagnoses and (presumed) pathogeneses in an RS cohort. Medical records of all RS patients presenting between 1995-2013 in three academic hospitals were evaluated. Four clinical geneticists re-evaluated all information, including initial diagnosis. Diagnoses were either confirmed, considered uncertain, or rejected. If uncertain or rejected, patients were re-evaluated. Subsequent results were re-discussed and a final conclusion was drawn. We included 191 RS patients. After re-evaluation and changing initial diagnoses in 48 of the 191 patients (25.1%), 37.7% of the cohort had isolated RS, 8.9% a chromosome anomaly, 29.3% a Mendelian disorder, and 24.1% no detectable cause. Twenty-two different Mendelian disorders were diagnosed, of which Stickler syndrome was most frequent. Stratification of diagnoses according to (presumed) pathogenic mechanism in 73 non-isolated patients with reliable diagnoses showed 43.9% to have a connective tissue dysplasia, 5.5% a neuromuscular disorder, 47.9% a multisystem disorder, and 2.7% an unknown mechanism. We diagnosed more non-isolated RS patients compared to other studies. Re-evaluation changed initial diagnosis in a quarter of patients. We suggest standardized re-evaluation of all RS patients. Despite the relatively high diagnostic yield pathogenesis could be determined in only 59.7% (71/119), due to limited insight in pathogenesis in diagnosed entities. Further studies into pathogenesis of entities causing RS are indicated.

Birth prevalence of Robin sequence in the Netherlands from 2000-2010: a retrospective population-based study in a large Dutch cohort and review of the literature.

The birth prevalence of Robin sequence (RS) is frequently cited to be 1 in 8,500 to 14,000 live births (range: 7,1-11,8 per 100.000), which is based on just a few epidemiological studies. The objective of this study is to contribute to the limited knowledge of the epidemiology of RS by determining the frequency of RS in a cleft palate (CP) population and the estimated birth prevalence in live births in the Netherlands, using distinct diagnostic criteria. A retrospective population-based analysis of the National Cleft Registry was performed in order to obtain all CP patients registered in the Netherlands from 2000-2010, in addition to a thorough review of the medical records in three Dutch Academic Pediatric Hospitals for the same period. Furthermore, a systematic search of the literature was conducted to allow for comparison of our findings. The Dutch birth prevalence of RS was estimated to be 1:5,600 live births (or 17.7 per 100,000), with a slight female predominance. RS was estimated to occur in a third of the CP population and patients with RS had a more severe cleft grade than the general CP population. The literature search yielded 42 studies reporting the birth prevalence for RS, which varied between 1:3,900 and 1:122,400 (0.8-32.0 per 100,000), with a mean prevalence of 1:24,500 (8.0 per 100,000). The birth prevalence of RS in the Netherlands was higher than reported for most other countries when similar diagnostic criteria were used, with a slight female predominance. A third of the general CP could be classified as RS.

A pragmatic approach to infants with Robin sequence: a retrospective cohort study and presence of a treatment algorithm.

OBJECTIVES: Initial approaches to and treatments of infants with Robin sequence (RS) is diverse and inconsistent. The care of these sometimes critically ill infants involves many different medical specialties, which can make the decision process complex and difficult. To optimize the care of infants with RS, we present our institution's approach and a review of the current literature. MATERIAL AND METHODS: A retrospective cohort study was conducted among 75 infants diagnosed with RS and managed at our institution in the 1996-2012 period. Additionally, the conducted treatment regimen in this paper was discussed with recent literature describing the approach of infants with RS. RESULTS: Forty-four infants (59%) were found to have been treated conservatively. A significant larger proportion of nonisolated RS infants than isolated RS infants needed surgical intervention (53 vs. 25%, p = .014). A mandibular distraction was conducted in 24% (n = 18) of cases, a tracheotomy in 9% (n = 7), and a tongue-lip adhesion in 8% (n = 6). Seventy-seven percent of all infants had received temporary nasogastric tube feeding. The literature review of 31 studies showed that initial examinations and the indications to perform a surgical intervention varied and were often not clearly described. CONCLUSIONS: RS is a heterogenic group with a wide spectrum of associated anomalies. As a result, the decisional process is challenging, and a multidisciplinary approach to treatment is desirable. Current treatment options in literature vary, and a more uniform approach is recommended. CLINICAL RELEVANCE: We provide a comprehensive and pragmatic approach to the analysis and treatment of infants with RS, which could serve as useful guidance in other clinics.

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.

Elevated Infant Mortality Rate among Dutch Oral Cleft Cases: A Retrospective Analysis from 1997 to 2011.

OBJECTIVES: First, to determine the infant mortality rate (IMR) for Dutch patients with isolated oral clefts (OC) as well as for patients with clefts seen in association with other malformations. Second, to conduct a similar analysis per cleft type: cleft lip with or without cleft palate (CP), CP (including Robin sequence). Third, to examine the underlying causes of death. MATERIAL AND METHODS: A retrospective review of the charts of patients with OC born in the period 1997-2011 and treated in three regional cleft centers in the Netherlands. RESULTS: One thousand five hundred thirty patients with OC were born during the study period and treated in the cleft centers. The overall IMR for all clefts was 2.09%, significantly higher than the general Dutch IMR of 0.45%. In a subanalysis per cleft type, the IMRs were 1.22, 1.38, 2.45, and 3.62% for cleft lip, cleft lip with CP, CP, and Robin sequence, respectively. The mortality rates for isolated OC did not differ significantly from the general Dutch rate. Causes of death were congenital malformations of the heart in 40.6%, airway/lungs in 15.6%, nervous system in 15.6%, infectious disease in 12.5%, and other or unknown in 15.6%. CONCLUSION: The elevated IMR observed in Dutch patients with OC is almost exclusively caused by associated congenital malformations. After diagnosis of an oral cleft an in-depth medical examination and a consult by the pediatrician and clinical geneticist is imperative to instigate the appropriate medical management.