Jyotsna Murthy

A comparison of bilateral infraorbital nerve block with intravenous fentanyl for analgesia following cleft lip repair in children.

Background:  The efficacy of analgesia with bilateral infraorbital nerve block and intravenous (i.v.) fentanyl were compared for cleft lip surgery in children.

Current concepts in genetics of nonsyndromic clefts.

Nonsyndromic cleft lip and palate is a complex genetic disorder with variable phenotype, largely attributed to the interactions of the environment and multiple genes, each potentially having certain effects. Numerous genes have been reported in studies demonstrating associations and/or linkage of the cleft lip and palate phenotypes to alleles of microsatellite markers and single nucleotide polymorphisms within specific genes that regulate transcription factors, growth factors, cell signalling and detoxification metabolisms. Although the studies reporting these observations are compelling, most of them lack statistical power. This review compiles the evidence that supports linkage and associations to the various genetic loci and candidate genes. Whereas significant progress has been made in the field of cleft lip and palate genetics in the past decade, the role of the genes and genetic variations within the numerous candidate genes that have been found to associate with the expression of the orofacial cleft phenotype remain to be determined.

Polymorphisms in genes involved in folate metabolism and orofacial clefts

BACKGROUND Orofacial clefts (OFCs) are one of the most common birth defects in humans. Maternal use of folate antagonists including dihydrofolate reductase inhibitors has been associated with a higher risk of OFCs thus suggesting that folate-related metabolism and associated genes may be involved in pathogenesis of OFC. The association between folate intake and risk of OFCs however is inconsistent. OBJECTIVE To review the published evidence that polymorphisms in genes that affect folate metabolism are associated with an increased risk of OFCs. METHODS We reviewed articles published up until October 2010, on polymorphisms of genes related to folate and homocysteine metabolism and their associations with OFCs. Articles were identified via Medline searches. CONCLUSIONS No consistent evidence emerged of a strong association between risk of OFCs and any known gene related to folate metabolism. Further, recent genome-wide association studies have not identified associations between OFCs and folate-related genes. Further studies are warranted to determine whether gene-environment interactions, including gene-nutrient interactions and epigenetic modifications of genes affect the risk of OFCs.

Best Practices for the Diagnosis and Evaluation of Infants With Robin Sequence: A Clinical Consensus Report.

IMPORTANCE Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis, and upper airway obstruction. Currently, no consensus exists regarding the diagnosis and evaluation of children with RS. An international, multidisciplinary consensus group was formed to begin to overcome this limitation. OBJECTIVE To report a consensus-derived set of best practices for the diagnosis and evaluation of infants with RS as a starting point for defining standards and management. EVIDENCE REVIEW Based on a literature review and expert opinion, a clinical consensus report was generated. FINDINGS Because RS can occur as an isolated condition or as part of a syndrome or multiple-anomaly disorder, the diagnostic process for each newborn may differ. Micrognathia is hypothesized as the initiating event, but the diagnosis of micrognathia is subjective. Glossoptosis and upper airway compromise complete the primary characteristics of RS. It can be difficult to judge the severity of tongue base airway obstruction, and the possibility of multilevel obstruction exists. The initial assessment of the clinical features and severity of respiratory distress is important and has practical implications. Signs of upper airway obstruction can be intermittent and are more likely to be present when the infant is asleep. Therefore, sleep studies are recommended. Feeding problems are common and may be exacerbated by the presence of a cleft palate. The clinical features and their severity can vary widely and ultimately dictate the required investigations and treatments. CONCLUSIONS AND RELEVANCE Agreed-on recommendations for the initial evaluation of RS and clinical descriptors are provided in this consensus report. Researchers and clinicians will ideally use uniform definitions and comparable assessments. Prospective studies and the standard application of validated assessments are needed to build an evidence base guiding standards of care for infants and children with RS.

Speech Outcome Following Late Primary Palate Repair

OBJECTIVE Early palate repair is recommended to minimize the development of disordered speech. We studied the speech outcome of late palate repair in 131 patients. The success of late palate repair is questioned because of the persistence of learned, compensatory misarticulations that are difficult to correct in spite of the establishment of correct palatal anatomy and a competent velopharyngeal mechanism. The objective of this study is to highlight the speech results following late primary repair of the palate. SETTINGS AND DESIGN Retrospective analysis of speech outcomes in 131 patients with cleft lip and palate who underwent primary palate repair after the age of 10 years between November 2000 and December 2004. None of the patients had received supervised institution-based speech therapy. However, all patients were counseled and oriented and demonstrated the correct place and manner of articulation for the phonemes misarticulated by them. Preoperative and 6- to 12-month postoperative speech samples were assessed within the parameters of articulation, hypernasality, nasal air emission, and speech intelligibility. OUTCOME The analysis indicated improvement in all speech parameters leading to an overall improvement in postoperative intelligibility for most patients. CONCLUSION Although definite improvement occurs in all parameters of speech following late primary palate repair, residual speech problems persist in most patients, requiring further evaluation and appropriate treatment.

Management of cleft lip and palate in adults

Introduction: With advancement of medical services in developed countries and awareness among the patients, it is rare to find an adult with an unoperated cleft lip and palate. However, the scenario is totally different in developing countries. Working as a part of a team in developing country, where co-coordinated team work is primitive, resources to provide treatment are very thin, public awareness of availability of treatment for this anomaly is minimal, the age of patients reaching for primary treatment varies from few days to late forties. Though the aim and aspiration is to provide holistic multidisciplinary care, the priority is getting treatment for all cleft patients. In such situation, the management of cleft lip and palate demands changes of approach, techniques and philosophy. Aims and Objectives: The deformed anatomy especially the facial bones and dentition is described. Due to well established deformities, the approach for management is individualized. The procedures and modification of procedures has been described. Results and Outcome: The outcome of the primary repair is adults certainly have less than satisfactory outcome for obvious reasons. The expected outcome and expectation of patients and families following primary surgeries in cleft lip and palate has been discussed. Though all adult patients got some improvement in speech after palate repair, achieving normal speech was difficult. The naso-labial appearance was not perfect, but well accepted by the patients and families. There are many psychosocial problems in these patients, the objective evaluation could not be done due to too many variables. However, primary repair of cleft lip and palate is justified and beneficial for the patients.

Anesthesia for cleft lip surgery in a child with Seckel syndrome--a case report.

We describe the anesthetic management of a 5‐year‐old girl diagnosed with Seckel syndrome, for cleft lip surgery. The syndrome is characterized by severe intrauterine and postnatal growth retardation with proportional dwarfism, typical beak‐like triangular nose, and mental retardation, accounting for its various synonyms such as bird‐headed dwarfism, microcephalic primordial dwarfism, nanocephalic dwarfism and Seckel‐type dwarfism.

Case Report: Congenital infiltrating lipomatosis of face

Congenital infiltrating lipomatosis of the face is a rare condition characterized by diffuse fatty infiltration of the facial soft tissues. There may be muscle involvement along with associated bony hyperplasia. It is a type of lipomatous tumor that is congenital in origin; it is rare and seen usually in childhood. We recently saw an 11-year-old girl with this condition. She presented with a swelling of the right side of the face that had been present since birth; there were typical findings on plain radiographs, CT, and MRI. The patient underwent cosmetic surgery. Histopathological examination showed mature adipocytes without any capsule.

Synchronous palatal closure and premaxillary setback in older children with bilateral complete cleft of lip and palate.

Background: Achieving good results after primary repair in older children with complete bilateral cleft lip and palate is a Herculean task, particularly when the premaxilla is protruding and twisted. The authors faced the problems of protruding premaxilla in children older than 5 years of age with bilateral complete cleft lip and palate who presented late for primary repairs. Due to financial constraints and the distances traveled, these patients prefer to come for fewer procedures with maximum benefits. These factors encouraged the authors to carry out synchronous palatal closure and premaxillary setback in older children with bilateral complete cleft of the lip and palate. Methods: Synchronous palatal repair and premaxillary setback were carried out in 14 patients. During palate repair, good exposure of the vomer made premaxillary setback easy without compromising the blood supply to it. The premaxilla, after osteotomy, was immobilized in all patients using the simple technique of Kirschner wire fixation; an additional gingivoperioplasty was performed in a few patients. Palatal closure was achieved with two flap techniques with intravelar veloplasty. Results: Proper positioning of the premaxilla was achieved in all patients, with good labial repair 6 months after the primary palate closure. There were no major complications, such as loss of the premaxilla or vascular compromise. Two patients had an anterior open bite and one patient had a postalveolar fistula. Conclusions: This technique had a few minor complications, but the overall surgical outcome was satisfactory. This protocol proved advantageous in achieving good results with fewer procedures and in reducing the total expenditures and the length of the patients hospital stay.

A Case of Cleft Lip and Palate Associated With Seckel Syndrome

Objective We report an unusual association of complete cleft of the primary and secondary palate with Seckel syndrome. Seckel syndrome is a very rare syndrome, with only 60 reported cases in the medical literature. It is an autosomal recessive disorder characterized by birdlike face, intrauterine growth retardation, dwarfism, and microcephaly. This young child of 5 years had a successful cleft lip repair under general anesthesia. The main features of the syndrome and the technical problems of anesthesia and surgery are discussed.