Cleft palate-lateral synechiae syndrome: a case report.

Cleft palate-lateral synechiae syndrome (CPLSS) is an extremely rare congenital malformation syndrome with undetermined etiology, characterized by a cleft palate and lateral intraoral synechiae linking the free borders of the palate to the mouth floor. We report a case of a female neonate, admitted for suckling difficulties with a cleft lip and palate associated to multiple lateral intraoral synechiae. Resection of the synechiae allowed oral feeding. Cleft palate-lateral synechiae syndrome is an exceptional syndrome as only seventeen cases have been reported in the literature. Synechiae can be isolated or more frequently in association with other congenital anomalies such as cleft lip and/or palate. These synechiae can cause functional deficits, especially in the respiratory and feeding tracts, language disorders or recurrent otitis. Although it is exceptional, this malformative entity must be known by medical practitioners in order to set up a well-adapted therapeutic protocol.

Congenital oral synechia and ankyloblepharon filiforme adnatum: Case report and literature review.

INTRODUCTION: Congenital intraoral synechias are adhesions of intraoral structures involving soft tissue. These conditions and another anomaly called ankyloblepharon filiforme adnatum, which is partial fusion of the eyelid margins by bands of tissue, are rarely reported in the literature. The association of both anomalies of the craniomaxillofacial region is an even more unusual finding. PURPOSE: This article adds more information to the literature by reporting a case of a neonate with a rare association of bilateral synechia between the jaws, fusion of buccal mucosa to the ridges and between the tongue and palate, and ankyloblepharon filiforme adnatum in both eyes, without any other facial or systemic malformation. METHODS: A literature review of similar cases published in PUBMED/MEDLINE was conducted followed by a discussion and comparison to the new case. CONCLUSION: The rare association of these congenital defects, without the presence of syndromic symptoms, could be diagnosed and treated easily with good prognostic evolution.

[Diagnosis and management of ankyloglossia in young children]. / Diagnostic et prise en charge de l'ankyloglossie chez le jeune enfant.

Ankyloglossia is a common condition. Its prevalence is between 3.2% and 4.8% depending on the series and is largely underestimated given the fact of non-diagnosis when the symptoms are limited. It is defined as a short lingual frenulum resulting in a limitation of the lingual mobility. It is due to a defect in cellular apoptosis embryogenesis between the floor of the mouth and tongue. The result is a fibrous and short lingual frenulum. Several classifications were used to make the diagnosis. However, these are the clinical implications, particularly on food and primarily breastfeeding in the baby and phonation in older children that will motivate the management. This is surgical and different techniques are available: infants before the age of 6 months and when the lingual frenulum is still a fine cellular membrane, frenotomy is recommended. Frenectomy with or without frenoplasty is indicated for the older child. The surgery is simple, the results are good and rapidly improving grievances. Complications are rare. Finally, speech therapy is important when there are implications for phonation.

Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations.

BACKGROUND: Raine syndrome (RS) is a rare autosomal recessive bone dysplasia typified by osteosclerosis and dysmorphic facies due to FAM20C mutations. Initially reported as lethal in infancy, survival is possible into adulthood. We describe the molecular analysis and clinical phenotypes of five individuals from two consanguineous Brazilian families with attenuated Raine Syndrome with previously unreported features. METHODS: The medical and dental clinical records were reviewed. Extracted deciduous and permanent teeth as well as oral soft tissues were analysed. Whole exome sequencing was undertaken and FAM20C cDNA sequenced in family 1. RESULTS: Family 1 included 3 siblings with hypoplastic Amelogenesis Imperfecta (AI) (inherited abnormal dental enamel formation). Mild facial dysmorphism was noted in the absence of other obvious skeletal or growth abnormalities. A mild hypophosphataemia and soft tissue ectopic mineralization were present. A homozygous FAM20C donor splice site mutation (c.784 + 5 g > c) was identified which led to abnormal cDNA sequence. Family 2 included 2 siblings with hypoplastic AI and tooth dentine abnormalities as part of a more obvious syndrome with facial dysmorphism. There was hypophosphataemia, soft tissue ectopic mineralization, but no osteosclerosis. A homozygous missense mutation in FAM20C (c.1487C > T; p.P496L) was identified. CONCLUSIONS: The clinical phenotype of non-lethal Raine Syndrome is more variable, including between affected siblings, than previously described and an adverse impact on bone growth and health may not be a prominent feature. By contrast, a profound failure of dental enamel formation leading to a distinctive hypoplastic AI in all teeth should alert clinicians to the possibility of FAM20C mutations.

Systematic Evaluation of the Upper Airway in a Sample Population: Factors Associated with Obstructive Sleep Apnea Syndrome.

OBJECTIVES: To investigate the anatomy of the upper airway (UA) of a representative sample of the adult population of São Paulo city, Brazil, and to identify factors associated with the presence of obstructive sleep apnea syndrome (OSAS), as confirmed using full-night polysomnography (PSG). STUDY DESIGN: Cross-sectional study. SETTING: Population-based sample. METHODS: A 3-stage sampling procedure was used to proportionally recruit adult residents of São Paulo city according to gender, age, and socioeconomic status. A complete evaluation was performed, including a systematic evaluation of the UA prior to conducting PSG. RESULTS: Nine-hundred ninety-three (90.2%) of the participants were seen by an ear, nose, and throat (ENT) specialist. Individuals who were diagnosed with OSAS (32.9%) presented a higher frequency of nasal symptoms and structural abnormalities (both nasal and oropharyngeal) compared with those without OSAS. No anatomical differences were observed in the facial skeleton. An abnormal nasal structure visible via anterior rhinoscopy was the only UA factor predicting OSAS after adjustments for the other common OSAS risk factors (male sex, aging, obesity, and increased neck circumference). CONCLUSION: This is the first study in which a systematic evaluation of the UA was followed by a sleep study in a population-based sample. In a sample of the general population that had not previously been screened for OSAS, having an abnormal nasal structure was found to be a risk factor for OSAS, in conjunction with other well-established clinical and demographic factors, such as male gender, increased age, increased neck circumference, and body mass index.

Reconstrução de lábio utilizando o retalho randomizado cervical do músculo platisma / Lip reconstruction with cervical platysma muscle randomized flaps

INTRODUÇÃO: A reconstrução cirúrgica da deformidade labial exige bom conhecimento anatômico e técnica cirúrgica. Fatores como localização da lesão, extensão, profundidade e tratamento inicial adequado constituem variáveis que são analisadas em conjunto para a estratégia cirúrgica mais apropriada. O retalho de Tsur é definido como randomizado do músculo platisma que pode ser elevado do pescoço como tubo unipediculado ou bipediculado, dependendo do tamanho e da localização da perda de substância. Pode incluir área pilosa cervical e ser utilizado em defeitos de plano parcial ou total do lábio. MÉTODO: Foram operados três pacientes com perda de substância labial extensa. Foi utilizado retalho bipediculado em dois casos e unipediculado em um caso. RESULTADOS: No primeiro paciente, foi liberado um dos pedículos do retalho cervical no 15º dia do pós-operatório. Após 30 dias, o outro foi liberado após integração completa ao lábio superior. A partir deste, retalhos ao acaso foram confeccionados para reconstrução do lábio inferior, columela e ponta nasal. O segundo paciente evoluiu com necrose da porção central do retalho, sendo realizada confecção de leito de ancoragem próximo à comissura. Apresentou melhora da continência salivar. O terceiro paciente evoluiu bem, sendo liberado o retalho lingual utilizado para reconstruir o lábio superior após 3 semanas. CONCLUSÃO: A reconstrução com o retalho de Tsur mostrou-se útil nos casos de reconstrução total do lábio superior e inferior, além de ser ótima alternativa na situação de impossibilidade de utilização do retalho microcirúrgico e de permitir um resultado estético aceitável com recuperação da função mastigatória e da fala adequadas, apesar da complexidade inicial dos casos.

INTRODUCTION: Surgical reconstruction of lip deformities requires proper anatomical knowledge and surgical techniques. Factors such as location, extent, depth, and appropriate initial treatment of the lesion are parameters that are simultaneously analyzed to identify the most suitable surgical strategy. The flap described by Tsur is defined as a platysma muscle randomized flap, and can be raised from the neck as a unipedicled or bipedicled tube, depending on the size and location of the loss of substance. This may include the hairy cervical area, and it can be used in defects of the partial or total plane of the lip. METHOD: Three patients with extensive loss of lip substance underwent surgery. A bipedicled flap was used in two cases, and a unipedicled flap in one case. RESULTS: In the first patient, one pedicle of the cervical flap was released on the 15th postoperative day. After 30 days, we released the other, after full integration into the upper lip. From this, flaps were randomly made for the reconstruction of the lower lip, columella, and nasal tip. The second patient developed necrosis of the central portion of the flap, and the recipient bed was anchored next to the commissure. The patient showed improved salivary continence. The third patient progressed well, and the tongue flap used to reconstruct the upper lip was released three weeks later. CONCLUSION: Reconstruction with a Tsur flap was useful in cases of total reconstruction of the upper and lower lip, in addition to being a great alternative in situations in which it was impossible to use microsurgical flaps. This technique also allowed the achievement of satisfactory aesthetic outcomes, and resulted in the recovery of masticatory function and appropriate speech, despite the initial complexity of the cases.

Surgical speech disorders.

Most speech disorders of childhood are treated with speech therapy. However, two conditions, ankyloglossia and velopharyngeal dysfunction, may be amenable to surgical intervention. It is important for surgeons to work with experienced speech language pathologists to diagnose the speech disorder. Children with articulation disorders related to ankyloglossia may benefit from frenuloplasty. Children with velopharyngeal dysfunction should have standardized clinical evaluation and instrumental asseessment of velopharyngeal function. Surgeons should develop a treatment protocol to optimize speech outcomes while minimizing morbidity.

The Tessier number 3 cleft: a report of 10 cases and review of literature.

The Tessier number 3 cleft is one of the most intricate and destructive of all facial clefts, presenting surgeons with a difficult task for reconstruction. We present a series of 10 patients with this rare cleft all treated by a single surgeon over 30 years. All patients with Tessier number 3 clefts treated between 1978 and 2008 by the senior surgeon were reviewed. Demographic data and all associated clinical findings including cranial and extracranial anomalies were recorded. Methods used to reconstruct each patient were also noted. Seven males and three females were identified and age at initial treatment ranged from 12 months to 12 years. Mean follow-up was 6.3 years. Multiple craniofacial anomalies were appreciated including other rare facial clefts, hypertelorbitism, lacrimal obstruction, anophthalmia, choanal atresia, and hemifacial microsomia. Amniotic banding was the most prominent extracranial finding noted in these patients. Tessier number 3 clefts can be associated with multiple other craniofacial anomalies making reconstruction challenging. Soft tissue and bony reconstruction must be considered separately, and a variety of tools may be employed to accomplish each goal. As the presentation can be highly variable, an individualized treatment plan must be made to meet each patient's specific needs.

Attention to rhotacism language problem by oral surgery and vibrostimulatory therapy: a case report / Tratamiento para el problema del lenguaje de rotacismo mediante cirugía oral y terapia vibroestimulatoria: reporte de un caso

Ankyloglossia may prevent the tongue from contacting the anterior palate, which promotes an infantile swallow and hamper the progression to an adult-like swallow. This can result in an open bite deformity and in some cases it can be associated to mandibular prognathism and language problems like rhotacism, described as the inability or difficulty in pronouncing the sound / r /. The surgical cut of the frenum tissue that connects the tongue to the jawbone (frenulectomy) and the language rehabilitation treatment with functional oral devices, represent an alternative treatment for this problem. An 11-year-old boy reported with language performance problems, dental malposition and diagnostic of ankyloglossia condition, received frenulectomy surgery and language rehabilitation treatment with functional oral devices during six months. Language diagnosis was carried out in three periods of time: prior to the surgery, four weeks after the surgery and six months later. Combined surgical and functional therapies proved to be a better alternative than only surgical therapy. Combined therapies increased the speech abilities as well as swallowing functions, therefore, the patient's self-esteem.

La anquiloglosia puede evitar que la lengua entre en contacto con la región anterior del paladar, lo que promueve una deglución infantil y dificultan la adecuada deglusión en el adulto. Esto también puede dar lugar a una mordida abierta y en algunos casos, estar asociada con prognatismo mandibular y problemas de lenguaje como el rotacismo, que se describen como la incapacidad o dificultad para pronunciar el sonido / r /. La exsición quirúrgica del tejido que conecta frenillo de la lengua a la mandíbula (frenectomía) y el tratamiento rehabilitador del lenguaje con dispositivos orales funcionales, representan una alternativa de tratamiento para este problema. Un niño de 11 años de edad, con problemas de lenguaje, malposición dental y diagnóstico de anquiloglosia, fue sometido a frenectomía y tratamiento de rehabilitación dellenguaje mediante dispositivos orales funcionales durante seis meses. El diagnóstico del lenguaje se llevó a cabo en tres periodos de tiempo: antes de la cirugía, cuatro semanas después de la cirugía y seis meses más tarde. La combinación de tratamiento quirúrgico y funcionales demostraron ser una alternativa mejor que la terapia quirúrgica por sí sola. Las terapias combinadas aumentaron la capacidad del habla, así como funciones de deglución, por lo tanto, la autoestima del paciente.

Gelatinous marrow transformation and hematopoietic atrophy in a miniature horse stallion.

Gelatinous marrow transformation, or serous atrophy of bone marrow fat, has been noted in livestock, laboratory animals, and wildlife in association with an inadequate plane of nutrition, inanition, or intoxication. This is a report of gelatinous marrow transformation and hematopoietic marrow atrophy in a 5-year-old miniature horse stallion. The horse had oral malformations leading to poor food assimilation and emaciation. A bone marrow biopsy obtained to investigate persistent anemia and leukopenia showed hematopoietic atrophy and replacement of fat with a granular extracellular substance, which stained with alcian blue, consistent with acidic mucopolysaccharide content. Surgical correction of the dental abnormalities resulted in improved food assimilation, weight gain, and resolution of cytopenias. In humans, gelatinous bone marrow transformation and hematopoietic atrophy are commonly associated with malnutrition from anorexia nervosa and other causes. The cause of hematopoietic atrophy is unknown but may relate to a nonsupportive marrow microenvironment and inadequate hematopoietic substrate availability. Similar pathogenic mechanisms were suspected in this horse.

Pediatric tongue-tie division: indications, techniques and patient satisfaction.

OBJECTIVE: To study the characteristics and outcome of paediatric tongue-tie division. PATIENTS AND METHODS: Retrospective analyses of 317 paediatric tongue-tie divisions (frenotomy or frenuloplasty). RESULTS: Based on a questionnaire returned by 159 (51%) of patients (or guardians) the most common indication was speech/articulation problems (64%). Other indications included restricted movement (18%) and lactation/nutrition problems (8%). 84% of patients (or guardians) reported benefit from the operation. The initial surgical technique was frenotomy (no or local anaesthesia) for 34%, frenotomy (general anaesthesia) for 16%, frenuloplasty (no or local anaesthesia) for 5% and frenuloplasty (general anaesthesia) for 46% of the patients. Almost one-third of children treated with frenotomy under no or local anaesthesia needed re-operation compared to one out of 181 (0.6%) treated with frenotomy or frenuloplasty under general anaesthesia. There were no postoperative complications. CONCLUSIONS: Frenotomy under no or local anaesthesia is safe and cost-effective, but one-third of children need re-operation. Adequate division of the frenulum is more important than the technique (frenuloplasty vs. frenotomy) used and seems to be easier to achieve under general anaesthesia.

Solitary median maxillary central incisor syndrome occurring together with oromandibular-limb hypogenesis syndrome type 1: a case report of this previously unreported combination of syndromes.

BACKGROUND: Solitary median maxillary central incisor syndrome is a unique developmental abnormality, involving the central incisor tooth germs, occurring with and without systemic involvement. This syndrome has been recorded in association with many other midline developmental anomalies and several known syndromes. Its presence, together with oromandibular-limb hypogenesis syndrome type 1, has not previously been reported. CASE REPORT: A 3-year-old girl was presented with early childhood caries and a solitary median maxillary central incisor. She had a median submucosal cleft palate and severe micrognathia with hypoglossia. In addition, she had short stature, eating difficulty, and hearing and speech problems. Comprehensive dental treatment for severe early childhood caries was accomplished with a 3-month follow-up appointment to monitor the oral health. The multidisciplinary consultation important for further management has been established. CONCLUSION: The results suggested that when a solitary median maxillary incisor tooth presents, a paediatrician and a geneticist should be asked to carefully examine the patient for other craniofacial malformations and especially midline systemic problems.

Complete and isolated congenital aglossia: case report and treatment of sequelae using rapid prototyping models.

Aglossia is a rare anomaly caused by failed embryogenesis of the lateral lingual swellings and tuberculum impar from the fourth to eighth gestational weeks. Most cases of aglossia and hypoglossia reported in the literature were associated with limb deformities, cleft palate, deafness, situs inversus, and several syndromes, such as Moebius, Pierre Robin, and Hanhart. This report describes the case of a 14-year-old girl with complete aglossia. As the tongue plays an important role in facial growth, this patient had dentofacial deformities that affected the mandible in particular. She also had severe malocclusion and agenesis of permanent mandibular incisors. Thyroid dysfunction, recently associated with aglossia, was not observed. The use of rapid prototyping models of the jaws as an aid to osteogenic distraction of the mandibular symphysis is also described.

Bilateral agenesis of parotid salivary glands, an extremely rare condition: report of a case and review of literature.

Agenesis of parotid gland is an extremely rare condition. Unilateral agenesis without association with other developmental abnormalities has been reported. We report a case of bilateral total agenesis of parotid glands in a patient who showed no other abnormalities.

Short humerus: an additional antenatal sonographic feature of OFDS type II.

The prevalence of skeletal dysplasia in the neonatal period is 2.4/10,000 births; it accounts for 1-2% of perinatal deaths, mainly stillbirths. A long bone measurement of less than -4 standard deviations is a definitive indication of skeletal dysplasia, whereas measurement between -2 and -4 standard deviations warrants detailed sonographic examination for other associated anomalies to arrive at a diagnosis. We report a case of oral-facial-digital syndrome type II that presented antenatally with polyhydramnios, short humerus, polydactyly, and duplicated thumb.