Pierre Robin sequence: Subdivision, data, theories, and treatment - Part 1: History, subdivisions, and data.

CONTEXT: The disorder currently accepted as Pierre Robin syndrome/anomaly/sequence (PRS) has been plagued by controversy ever since initially being described. Controversy exists not only about the appropriate terminology and etiopathogenesis of the disorder but also about its management. Therefore, clinical findings and treatment outcomes of a large database of 266 PRS cases were compared with the current state of knowledge in scientific literature related to history, clinical description, diagnostic criteria, epidemiology, theories of oligohydramnios, mandibular catch-up growth, midfacial hyperplasia, and the timing of management. AIMS OF PART 1: Display disparities of the widely published subject of PRS that exist within the literature. SUBJECTS AND METHODS: A literature search related to diagnostic criteria was compared to findings of one of the largest PRS databases worldwide. RESULTS: Regarding diagnostic criteria two subdivisions, the Fairbairn-Robin triad (FRT) and the Siebold-Robin sequence (SRS) can be clearly distinguished. Both present with micrognathia and glossoptosis, the former with, the latter, however, without a palatal cleft. CONCLUSIONS: According to clear diagnostic criteria, PRS has to be subdivided in the future into FRT and SRS cases, as they may require different treatment approaches.

Pierre Robin sequence: Subdivision, data, theories, and treatment - Part 2: Syndromic and nonsyndromic Pierre Robin sequence.

CONTEXT: The disorder currently accepted as Pierre Robin syndrome/anomaly/sequence (PRS) has been plagued by controversy ever since initially being described. Controversy exists not only about the appropriate terminology and etiopathogenesis of the disorder but also about its management. Clinical findings and treatment outcomes of a large database of 266 PRS cases were compared with the current state of knowledge in the scientific literature, relating to history, clinical description, diagnostic criteria, epidemiology, theories of oligohydramnios, mandibular catch-up growth, midfacial hyperplasia, and the early management. AIMS OF PART 2: Contribute to the sparse scientific knowledge about pathogenesis and involved genetics. SUBJECTS AND METHODS: An analysis of this large database was conducted focusing on genetic involvement, family history, and the incidence of additional syndromes. RESULTS: Beside of differences related to clinical signs of dyspnea, feeding problems and mortality rates, various concomitant syndromes, and genetic abnormalities were found in cases of Fairbairn-Robin triad (FRT) and Siebold-Robin sequence (SRS), in addition to differences in relation to clinical signs of dyspnea, feeding problems, and mortality rates. CONCLUSION: Multiple FRT cases presented with various concomitant syndromes and genetic abnormalities, but only one type occurred in two SRS cases. The latter presented a significantly different mortality rate when compared to the FRT subgroup.

Pierre Robin sequence: Subdivision, data, theories, and treatment - Part 3: Prevailing controversial theories related to Pierre Robin sequence.

CONTEXT: The disorder currently accepted as Pierre Robin syndrome/anomaly/sequence (PRS) has been plagued by controversy ever since initially being described. Controversy exists not only about the appropriate terminology and etiopathogenesis of the disorder but also about its management. Therefore, clinical findings and treatment outcomes of a large database of 266 PRS cases were compared with the current state of knowledge in the scientific literature related to history, clinical description, diagnostic criteria, epidemiology, theories of oligohydramnios, mandibular catch-up growth, midfacial hyperplasia, and the early management. AIM: The aims of Part 3 debate the controversial biological theories relating to PRS. MATERIALS AND METHODS: Oligo-/poly-hydramnios, mandibular catch-up growth, and midfacial hyperplasia, the three in the literature most prevailing theories related to PRS, have been compared and discussed with the findings provided by this large database of 266 Siebold-Robin sequence (SRS) and Fairbairn-Robin triad (FRT) cases. RESULTS: History and clinical findings evaluated in this database refute the first two theories. Although manifold midfacial appearances were demonstrated in FRT cases, a third of all SRS cases presented with mid-facial hyperplasia. CONCLUSION: The three main biological theories regarding PRS could not be verified after thorough analysis of the database.

Pierre Robin sequence: Subdivision, data, theories, and treatment - Part 4: Recommended management and treatment of Pierre Robin sequence and its application.

CONTEXT: The disorder currently accepted as Pierre Robin syndrome/anomaly/sequence (PRS) has been plagued by controversy ever since initially being described. Controversy exists not only about the appropriate terminology and etiopathogenesis of the disorder but also about its management. Therefore, clinical findings and treatment outcomes of a large database of 266 PRS cases were compared with the current state of knowledge in the scientific literature related to history, clinical description, diagnostic criteria, epidemiology, theories of oligohydramnios, mandibular catch-up growth, midfacial hyperplasia, and early management. AIMS OF PART 4: To provide a systematic treatment protocol for Fairbairn-Robin triad (FRT) and Siebold Robin sequence (SRS) patients based on clinical findings and experience with 266 PRS cases. SUBJECTS AND METHODS: A plethora of treatment modalities and their outcome in literature have been compared to those applied in this database and their outcomes. RESULTS: The management of SRS/FRT depends on various factors including compromised airways, feeding difficulties, as well as the sequence of the reconstructive ladder. CONCLUSION: Based on the novel PRS subdivisions, a stepwise sequential treatment approach is outlined, addressing the particular needs of each disorder systematically.

Odontogenic myxoma: a clinicopathological study in a South African population.

BACKGROUND: Odontogenic myxoma is a benign, locally aggressive neoplasm of the jaws. Prevalence rates range between 0.5% and 17.7% of odontogenic tumours. There are few reports in the literature on this lesion in African populations, and therefore, this study aimed to report on odontogenic myxoma in a South African population over a 40-year period. METHODS: The clinical records and orthopantomograms of 29 histopathologically diagnosed odontogenic myxoma were retrospectively analysed. Details of age, gender, ethnic origin and clinical, histological as well as radiological features were recorded. RESULTS: The ages of patients ranged from 7 to 44 years with a mean of 21.3 years. The male-to-female ratio was 1:2.6 with the majority of patients being of mixed race and Africans. Clinically, 31% complained of pain while 58.6% had a history of swelling. The majority of odongenic myxomas (62.1%) were located in the mandible with the posterior region being most commonly affected. Multilocular lesions (69.2%) were more common and were significantly larger than unilocular lesions (P < 0.05). The outline of these tumours was mostly well-defined (84.6%) with different degrees of cortication. Only one tumour caused tooth resorption, while 20 cases (76.9%) caused tooth displacement. Six tumours expanded into the maxillary sinus, and 14 tumours caused expansion of the mandible. CONCLUSIONS: Odontogenic myxomas have variable clinical, radiological and histological features. Most of these features in this population were similar to other populations. It is mandatory to use conventional radiographs along with histopathological examination to aid in arriving at an accurate diagnosis.

Midface distraction without osteotomies in an infant with upper respiratory obstruction.

Midface hypoplasia is a common craniofacial anomaly and may manifest as part of a wider syndrome or as an isolated finding. Underlying this condition is a complex morphology, resulting from development across multiple interacting suture systems. Current treatment relies on various combinations of osteotomies and distraction using internal or external devices. Such procedures, while often successful, involve significant morbidity and trauma to the very young patients whom comprise the majority of the treatment group. The present article describes the successful development of a technique for midfacial distraction without osteotomies. In a case study representing a series of 11 patients, a 4-month-old baby girl with midface hypoplasia and respiratory obstruction requiring nasopharyngeal intubation underwent this 2-stage procedure. After 72-day distraction, upper incisor-posterior clinoid process distance had increased 18.4 mm, and by 4 months after removal of the distraction devices, it had increased a further 2.6 mm. Craniofacial morphology was markedly improved combined with complete resolution of her respiratory obstruction. No blood transfusion or intensive care facility was required. This innovation demonstrates a procedure with similar efficacy but significantly reduced morbidity and cost compared with existing methods. Interestingly, continued growth after the distraction period may allude to a different mechanism of induced osteogenesis than previously described.