Thurston syndrome with thalassaemia: a rare case devising a novel molecular and phenotypic variation.

A male infant presented with progressive paleness of the body since 3 months of age. On examination, the child had pallor, microcephaly with dysmorphic facies (depressed nasal bridge, low set ears, retrognathia, high arched palate and tongue hamartoma). Postaxial polydactyly in bilateral hands and feet, broad great toes, with syndactyly of left fourth and fifth toes were present. The haemogram showed severe anaemia with a microcytic hypochromic picture. High-performance liquid chromatography (HPLC) was normal. However, the parents' HPLC was suggestive of beta thalassaemia trait. Whole-exome sequencing revealed Thurston syndrome with beta-thalassaemia in homozygous pattern with a novel mutation. It is a rare genetic syndrome exclusively found in the South Asian population. Due to the rarity, identification of this syndrome is often difficult and requires awareness among clinicians. However, it is important to diagnose the disorder accurately in order to provide appropriate genetic counselling and prognostication to the parents.

Ocular Hypertelorism: Principles and Management.

Background: Ocular hypertelorism (OH) was initially considered as un-differentiated congenital cranio-facial deformity, however, I.T Jackson mentioned it as teleorbitism, considering it as increase in the inter-canthal width, inter-pupillary as well as inter-orbital distance as a result of lateralization of the orbital complex in total. Furthermore, Sailer further refined it and included the distance from the lateral orbital wall, i.e. he denoted increased inter-orbital distance along with the distance between lateral orbital walls as true hypertelorism. This condition is rare and is seen in association with midline congenital defects affecting the cranio-facial region. Classification and review of cases: The ideal time for the OH correction is usually between 5 and 8 years of age. However, the management of OH is complex, and several techniques have been described in literature for the same. Here, we describe our classification of OH, along with the evolution of the surgical aspects, the key treatment principles we follow, together with the types of the osteotomies and their indications. Furthermore, we delineate the four main principles that we have set for OH management. Results: Though the improvement in appearance is seen immediately post-surgery, however, this challenging surgery faces a multitude and common postoperative complications which have been represented in this article. The surgeon needs both the technical expertise and an inclination towards aesthetics for the execution of such procedures. Conclusion: It is preferred that the management of OH should be individualized as per the stage of the craniofacial growth and the psychosocial needs of the patient and the parents.

Reconstruction options in pediatric population with hemi or total mandibulectomy defects: A systematic review.

Purpose: Mandibular pathologies causing extensive defects in pediatrics is relatively rare, and sparse literature is available for the reconstructive options of the same. The main aim is to provide optimum esthetics and function. Materials and methods: PubMed, Cochrane CENTRAL, Embase, MEDLINE and Scopus databases were searched for articles published only in English language up to May 2021, involving reconstruction of hemi or total mandibulectomy defects in patients with the age of 8 years or less, associated with benign or malignant pathology. Primary outcome variable was the success of reconstruction. Qualitative analysis was performed using a microsoft excel-sheet. Results: Of the 2201 articles reviewed, only fourteen were selected for data extraction. 22 patients were included. Fifteen were benign, six were malignant pathologies, and one was not defined. Hemi-mandibulectomy was performed in twenty-one cases, while one underwent total mandibulectomy. Condyle was preserved in five cases, while was removed in nine. Single-stage reconstruction was done in nineteen cases, while second-stage reconstruction was done in the other three. Reconstruction was done with fibular graft in thirteen cases, while CCG was used in others with variable follow-up time. Though minor complications were observed, success was observed in all cases post reconstruction with either fibula or CCG graft, defined either by function, or growth. Conclusion: Irrespective of the age-group, nature of pathology and size of the defect, reconstruction should be considered with either fibula or CCG in single-stage, as they are equally efficacious, with minor complications. Well-defined reconstructive paradigm should be developed for pediatric mandibular reconstruction.

Nasal symmetry after different techniques of primary lip repair for unilateral complete cleft lip with or without cleft of the alveolus and palate: A systematic review.

The aim of this systematic review was to establish the effect of different surgical repairs for the lip on nasal symmetry. PubMed, Scopus, Embase, Cochrane CENTRAL, and Ovid databases search was performed initially for only English-language articles, in patients with unilateral complete cleft lip with or without cleft alveolus and palate (UCCLAP) who were younger than 1 year of age and undergoing cleft lip repair, and are published from the earliest data available up to December 31, 2020. The primary outcome variable was nasal symmetry, with reported complications being secondary variables. A qualitative synthesis was provided. A total of 19,828 records were obtained, and 17 articles were selected for final review. Assessment of the risk of bias of the included randomized controlled trials (RCTs) (N-1) was done with the Cochrane Risk of Bias 2 (RoB-2) tool, and the ROBINS-I tool was used for non-randomized studies (n = 14). Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) was applied to evaluate the quality of the body of evidence. The majority of the included studies compared the triangular repair with the rotation advancement (RA) techniques, and preferred RA or its modifications. In terms of the nasal symmetry, the Fisher repair proved to be superior to the RA technique. Neither RA nor straight line repair was superior to one another. The Delaire technique may be preferred over the modified RA. Also, satisfactory outcomes were observed with simultaneous lip-nose repair. This systematic review examined a plethora of techniques, and the heterogeneity between studies was very high regarding type of surgery, method of nasal symmetry assessment, and length of follow-up, thus producing low-quality evidence; therefore, results should be interpreted with caution. Future research requires RCTs with larger sample sizes and appropriate length of follow-up, and surgeries preferably performed by a single experienced surgeon.

Cleft surgery in India - Past, present and future and a model for global knowledge transfer.

This article represents the point of view and philosophy of GSR Institute of Craniomaxillofacial and Facial Plastic Surgery (GSRIFCS) in the management of craniofacial and cleft patients. GSRICFS is a 50 bedded state of art high volume cleft centre in Hyderabad which has accomplished greater than 30000 cleft surgeries. Cleft surgery in India has improved greatly over the last 70 years since the innovations of the Colombo plan to now, resulting in better healthcare facilities, research and transfer of knowledge globally. In this period, the deprivations of the past, due to lack of available, accessible or affordable care or awareness of outpatients and their parentage, of the possibilities, some of cultural origin such as various superstitions leading to isolation and social stigma, have been largely but not completely overcome. There were minimal centres in the past, which provided care, and this was partly due to scarcity of funding, lack of training and non-sustainability of skilled human recourses. Surgery for cleft requires not only a sophisticated infrastructure, but instrumentation, specialized anesthetists and high-end post-operative care along with a multidisciplinary team involving surgeons, anesthetists, paediatricians, psychologists, orthodontists and specialized nurses for optimal outcomes. The article elaborates the vision, mission and plan in establishing the GSRICFS and how it might form a model for the future of cleft care in LMICs.

Comparison of outcomes with the single-puncture and double-puncture techniques of arthrocentesis of the temporomandibular joint: An updated systematic review and meta-analysis.

OBJECTIVE: To compare intra-operative and postoperative outcomes between the single-puncture and the standard double-puncture techniques of arthrocentesis. METHODS: PubMed, Embase, ScienceDirect and CENTRAL databases were searched from inception up to 31st August 2020. Randomised controlled trials (RCTs), prospective and retrospective studies conducted on patients with temporomandibular joint disorders comparing any type of single-puncture arthrocentesis with standard double-puncture arthrocentesis and reporting intra-operative/postoperative outcomes were included. Assessment of the risk of bias was done with the Cochrane Collaboration risk assessment tool. RESULTS: Thirteen studies were included (12 were RCTs). Analysis of a limited number of studies indicated no difference in pain or maximal mouth opening (MMO) between the single-puncture type-1 or type-2 and the double-puncture technique at various follow-up intervals. Pooled analysis (four studies) demonstrated that the single-puncture type-2 technique requires significantly less operating time as compared to the double-puncture method. No such difference was noted between single-puncture type-1 and double-puncture techniques. Analysis of two studies indicated significantly reduced intra-operative needle relocations with the single-puncture techniques. Studies were not of high quality with concerns of bias in randomisation, allocation concealment and blinding. CONCLUSIONS: Limited data indicate no difference in pain or MMO with single- or double-puncture techniques of arthrocentesis. Amongst the three techniques, the single-puncture type-2 technique has the advantages of significantly lower operating time and reduced intra-operative needle relocations and it may be the preferred method of TMJ arthrocentesis in clinical practice.

Modified anterior maxillary distraction using "Winged Osteotomy": A technical note.

Hypoplasia of the maxilla is common in cleft lip and palate (CLP) deformities. Orthognathic surgery has been the traditional method of correction in such developmental anomalies since 1970's, with Le-Fort I advancement as its long-established management modality, which results in significant speech alteration and relapse rate. In contrast, anterior maxillary distraction (AMD) has the advantage of lesser chances of relapse, velopharyngeal insufficiency, and alteration of speech. This modified AMD technique carries a handful of its advantages as it is an easier procedure compared to the Le-Fort I osteotomy as it gives positive soft tissue changes by improving the projection of the nose and the upper lip, normalizes naso-labial angle, and changes the facial prominence from concave to convex simultaneously as it gives nasolabial and sub-malar prominence post-operatively due to the extension of horizontal cuts up to to the zygomatic region, leading to lesser complications. Also, the hollowing caused by the conventional AMD osteotomy cuts is eliminated by the extension of the winged osteotomy.

Intestinal-type Adenocarcinoma Presenting as a Mandibular Mass: An Unusual Presentation.

Intestinal-type adenocarcinoma is an aggressive malignancy with the rare possibility of metastatic spread to the mandible. We represent a case of a 30-year-old female patient who reported with a chief complaint of a right mandibular mass for 4 months. Orthopantomogram X-ray observed an ill-defined lytic lesion with severe periosteal reaction. Incisional biopsy revealed "colonic variant of intestinal-type adenocarcinoma." Expression of cytokeratin 20 and caudal type homeobox transcription factor 2 (CDX-2) markers was seen on immunohistochemistry. Biochemical markers such as serum cancer antigen 125, serum alkaline phosphatase, and serum carcinoembryonic antigen were raised. Contrast-enhanced computed tomography of the thorax and abdomen suggested cavitary lesions in the bilateral lungs, right adrenal gland, and mediastinum. Positron emission tomography revealed multiple lesions in the body, hence confirming the diagnosis. The patient was kept on palliative chemotherapy. It is concluded that prompt diagnosis and initiation of treatment increases the chances of survival in such cases.

Comparison of outcome of open reduction and internal fixation versus closed treatment in pediatric mandible fractures-a retrospective study.

The aim of the study was to compare the outcome and complications of open reduction and internal fixation (ORIF) with closed treatment, as well as to review the literature. This was a retrospective study on pediatric patients with mandible fracture. The primary objective was a comparison of outcomes in terms of bone healing, maximal incisal opening (MIO), and occlusion, and the secondary objective was to review complications. A total of 77 pediatric patients (age <12 years) were managed with closed treatment and 23 with ORIF. In all, 62 patients were found with a single fracture (22 patients with parasymphysis fracture and 21 with condyle fracture, followed by symphysis, angle, and body fracture) and 38 patients with more than one fracture, with symphysis and bilateral condyle fracture being the most common. Bone healing was observed in all the patients. Mean MIO was 26.9 ± 2.8 mm and 29.3 ± 1.7 mm in the closed and ORIF group, respectively, and the difference was statistically nonsignificant (p = 0.5). One patient (1.3%) had deranged occlusion, and mobility was observed in one patient (1.3%) in the closed treatment group. Infection and nerve paresthesia were not seen in any patient at follow-up. Although closed treatment is preferred, as it preserves the soft tissue and periosteum, a displaced mandible fracture especially with co-existing condylar fracture should be treated by ORIF.

Massive posterior cranial vault erosion and its reconstruction: A peculiar presentation of "mega cisterna magna".

Dandy-Walker (DW) complex is a rare central nervous system malformation, commonly associated with complex non-neurological conditions, defined by four variants with characteristic anatomic features, still inadequately known for its etiological aspects. "Mega Cisterna Magna" (MCM) is a type of DW complex which is represented by an enlarged posterior cranial fossa. Though reduction cranioplasty has been reported in enlarged posterior cranial fossa malformations, however we report a peculiar case of MCM with massive posterior cranial bone erosion, presenting completely asymptomatic at an age of 8 years, without any associated co-morbidities till date, nor with any evident occipital mass at birth. Survival of the child till this age is an exception in itself, but this can probably be explained by the presence of the giant defect of the posterior cranial bone, which must have acted like a vent and prevented the elevation of the ICP. Hence no symptoms were observed till date. Ventriculo-peritoneal (VP) shunting was done to drain the accumulated fluid, followed by massive cranioplasty, which was challenging and was performed with autologous cranial and fibular bone grafts, along with alloplastic titanium mesh, and thus achieving marked aesthetic improvement with satisfactory bone healing at a 3-year follow-up.

Comparison of piezosurgery and conventional rotatory technique in transalveolar extraction of mandibular third molars: A pilot study.

OBJECTIVES: To compare the postoperative outcomes in impacted mandibular third molar extraction using piezosurgery and conventional rotary technique; and to assess the stress levels in both the techniques by measuring salivary cortisol levels. METHODS: Ten patients with symmetrical impacted lower third molars were included in this split mouth pilot study. Measurements for mouth opening and swelling were taken preoperatively on the day of surgery and 1 week after surgery. Pain was evaluated using Visual Analog Scale (VAS) from first postoperative day for six consecutive days. Saliva collection for analysis of cortisol levels was done at four time intervals - before starting the procedure, immediately after the procedure, 20 min and 1 week later. The mean in two groups was compared using paired t-test/Wilcoxon signed rank test as applicable. Friedman test was used to compare multiple readings of pain and salivary cortisol. RESULTS: Reduction in mouth opening was more in rotary group than piezosurgery group but was not statistically significant (p = 0.092). Increase in facial swelling was more in the rotary group than piezosurgery group with statistically significant values (p = 0.020). Rotary group had higher values for postoperative pain as compared to piezosurgery on all the days and the difference was statistically significant on each day except second postoperative day. Salivary cortisol levels were elevated in both the groups with the mean values higher in group I (rotary) than in group II (Piezosurgery). CONCLUSION: Extraction of impacted lower third molar results in more favourable outcome when carried out by piezosurgery technique. Further studies are needed to compare the salivary cortisol response in rotary and piezosurgery techniques.