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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.

Mandibular hypoplasia is a frequently encountered craniofacial difference and can be classified into three groups: congenital, developmental, and acquired. The focus of this article is on the congenital group, the majority of which is associated with syndromes. There have been numerous publications on patients with syndromic congenital mandibular hypoplasia; however, there has been no investigation and differentiation of the "nonsyndromic" patients. The purpose of this study was to analyze this subgroup of patients with nonsyndromic congenital mandibular hypoplasia to determine incidence, clinical presentation, and treatment.A retrospective analysis of all children treated for congenital mandibular hypoplasia at the Children's Hospital of Philadelphia between 1975 and 2003 was performed. Two hundred sixty-six patients were identified during this 27-year period. Of these 266 patients, 148 presented with oculo-auriculo-vertebral (OAV) spectrum, 52 with mandibulofacial dysostosis, 31 with Pierre Robin sequence, and 17 with miscellaneous syndromes. The remaining 18 patients were identified as having congenital mandibular hypoplasia without any known syndrome. Of the 18 patients with nonsyndromic congenital mandibular hypoplasia, 17 had primary bilateral growth anomalies and 1 had a primary unilateral growth disturbance resulting in bilateral deformity. Seven patients were products of a complicated pregnancy, 10 patients required tracheotomy or prolonged intubations, and 7 required gastric tube feedings. Associated anomalies included temporomandibular joint ankylosis in five patients, aglossia/microglossia in three patients, and rare craniofacial clefts in three patients. The average number of procedures required to treat the mandibular deformity for each patient was six. Although mandibular hypoplasia is a common craniofacial anomaly, patients manifesting nonsyndromic congenital mandibular hypoplasia are a rare subgroup. Case reports illustrating the range of mandibular deformities are presented.

All children admitted to our hospital between 1964 and 1991 with a diagnosis of Pierre Robin sequence were divided into three groups according to the severity of their symptoms: group I: adequate respiration in prone position and bottle feeding; group II: adequate respiration in prone position but feeding difficulties requiring gavage; and group III: children with respiratory distress and endotracheal intubation and gavage. The presence of associated anomalies, prematurity, and psychomotor impairment was noted as well as the surgical interventions performed. We found 56 children (44.8 percent) in group I, 40 children (32 percent) in group II, and 29 children (23.2 percent) in group III. Seventeen children (13.6 percent) died: 1 of 56 in group I, 4 of 40 in group II, and 12 of 29 in group III. Among the 125 patients, 57 presented at least one associated anomaly other than a cleft palate and the Pierre Robin triad. Thirteen deaths were found in this group (13 of 57 = 22.8 percent). Ten children were premature (10 of 125), and 6 of the premature infants died (60 percent). Twenty-two children required at least one surgical procedure to relieve the upper airway obstruction. Among the 108 survivors in this study, 25 presented a psychomotor impairment (23.1 percent). The children admitted after 1986 were submitted to routine serial blood gases, oxygen saturation monitoring, and polysomnographic recordings. The therapeutic interventions were done earlier. Thirty-four children were followed after 1986: 14 in group I, 11 in group II, and 9 in group III.(ABSTRACT TRUNCATED AT 250 WORDS)

The oromandibular limb hypogenesis syndrome is a group of anomalies affecting the mandible, tongue, and maxilla with or without reductive limb anomalies. Their genetic origin is uncertain, and no drug-induced teratogen has been clearly identified. Although many similarities exist on both an embryologic and clinical level, distinction between these entities is appropriate. A new classification system with these principles in mind is presented. Two cases are presented of glossopalatine ankylosis with hypodactyly representing the thirteenth and fourteenth cited in the world literature. One patient presented with a fatal pulmonary hypoplasia not previously reported in association with this syndrome. Three of the 14 cases with reductive limb anomalies reported have had fatal outcomes.