Nasal Bridge Research Articles

A Term Infant with a Murmur and Dysmorphic Features.

A Term Infant with a Murmur and Dysmorphic Features.

Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosis.

Joubert syndrome (JS) is a neurodevelopmental disorder characterized by hypotonia and developmental delay, as well as the obligatory molar tooth sign on brain imaging. Since hypotonia and developmental delay are nonspecific features, there must be a high level of clinical suspicion of JS so that the diagnostic brain imaging and/or molecular testing for the >38 genes associated with JS is/are obtained. The goal of this study was to analyze clinical photographs of a cohort of patients with JS to define a list of physical examination features that should prompt investigation for JS. Analysis of photographs from 94 individuals with JS revealed that there is a recognizable pattern of facial features in JS that changes over time as individuals age. Macrocephaly, head tilting even when looking straight ahead, eye movement abnormalities (oculomotor apraxia, nystagmus, strabismus), and ptosis are common in those with JS. Distinctive features in younger children include triangular-shaped open mouth with tongue protrusion; in older children and adults, mandibular prognathia and prominent nasal bridge are common.

EP104: Two patients with autism secondary to ZBTB18 loss-of-function pathogenic variants

Neurodevelopmental disorders and intellectual disability remain a diagnostic challenge due to heterogeneity and the long diagnostic odyssey experienced by many patients and families. Advancements in molecular technology and the increasing use of exome sequencing have led to the emergence of a growing list of causative genes. The ZBTB18 gene was found to function as a transcriptional repressor influencing neuronal growth, migration, differentiation, and maturation. Point variants in ZBTB18 have been identified in patients with neurodevelopmental disorders with significant variability in the phenotypic spectrum, with the most consistent features being anomalies of the corpus callosum, developmental delay, dysmorphic facial features, and hypotonia. Autism has been previously reported in only 2/30 patients with ZBTB18-related disorder. We present two additional patients with ZBTB18-related disorder who presents with autism in addition to previously described phenotypes. Our first case is an 8-year-old boy who presented with mild to moderate speech and developmental delay, hypotonia, autism spectrum disorder, and attention deficit hyperactivity disorder (ADHD). He said his first word at 18 months of age and at 8 years old he said 50-100 words and could speak in 3 word sentences. He could use utensils by 6 years old, but typically ate with his fingers. He can dress himself, but needs assistance for bathing. He began walking at 2 ½ years of age and climbed stairs alone at 4 years of age. He continues to have low tone and significant ataxia. OFC is 25%, height is 80%, and weight is 50%. His brain MRI at 3 years of age showed a prominent cisterna magna versus retrocerebellar arachnoid cyst, but there was no agenesis of the corpus callosum. He had brachycephaly with coarse facial features, mild mid-face retrusion, a cupid-bow upper lip, wide nasal tip, and hirsutism. He additionally had joint hypermobility with a Beighton score of 6/9. Chromosomal microarray and fragile X testing were normal. Exome sequencing analysis identified a likely pathogenic de novo c.583C>T, p.Arg195Ter variant in ZBTB18. Our second case is a 7-year-old boy, born at 30-weeks gestation, who presented with mild to moderate speech and developmental delays, hypotonia, autism spectrum disorder, and ADHD. He did not say his first word until around 3 years of age and is now able to combine only 2-3 words. He can dress himself and can scribble. He walked at 2 years of age and was able to jump at 3 years of age. OFC is 30%, height is 20%, and weight is 70%. He has a bulbous nasal tip with a high nasal bridge, mild hypotelorism, mild synophrys, unilateral preauricular skin tags with ear symmetry, and broad hands. He had an EEG done due to concerns of possible seizure activity, but this study was normal. He has not had a brain MRI. Chromosomal microarray and fragile X testing were normal. Exome sequencing analysis identified a pathogenic de novo c.881C>T, p.Gln271Ter variant in ZBTB18. We report two new unrelated patients with ZBTB18-related disorder, adding to the 30 patients reported previously. Both our patients also have autism in addition to significant behavioral issues and hypotonia with ataxia. These findings broaden the current phenotype of ZBTB18-related disorder to include autism. ZBTB18-related disorder is a chromatinopathy, as ZBTB18 is active in chromatin assembly, organization and transcriptional repression. Although autism has not been consistently reported in other patients with ZBTB18-related disorder, autism in these patients is not unexpected, as autism is a common feature of many chromatinopathies.

EP080: A rare case of mosaic trisomy 15 with chylothorax

eP080: A rare case of mosaic trisomy 15 with chylothorax

EP456: Heterozygous deletion of the VEGFC gene in 4q34.3 is associated with Milroy-Like lymphedema: First prenatal case report

Primary or congenital lymphedema occurs rarely on idiopathic or developmental abnormalities in the lymphatic system, especially hypoplasia or aplasia of lymphatics. Milroy disease (MIM #153100), an autosomal dominant congenital lymphedema, characterized by peripheral edema mainly of the lower extremities, is resulted from pathogenic variants in the vascular endothelial growth factor receptor 3 (VEGFR3) gene (MIM *136352). However, missense VEGFR3 variants were only identified in approximately 70% of the patients diagnosed with Milroy disease suggesting genetic heterogeneity of the condition. Recently, pathogenic variants in VEGFC gene (MIM *601528), encoding one of the VEGFR3 ligands, were associated with autosomal dominant Milroy-like primary lymphedema (MIM #615907), a rare autosomal dominant disorder, characterized by congenital isolated lymphedema. Hitherto, only twenty-six postnatal cases in six families world-wide with primary lymphedema harboring VEGFC single point pathogenic variants were recorded (Table 1). No prenatal cases as well as VEGFC deletions were reported. We report the three-generation family with Milroy-like disease. The proband is a 24+4-week female fetus. Ultrasonography at 23+5 weeks of gestation showed fetal edema of the feet, prefrontal edema and facial dysmorphism including broad nasal bridge, short philtrum, and full lower lip. The fetus’s mother was a 22-year-old female with occasional swelling of lower legs and ankles during pregnancy or warm weather. Dysplastic, upslanting and yellowish toenails were also observed. The fetus’s grandmother was a 40-year-old female and had a family history of lymphedema. Family history dates back to the fetus’s great-grandmother, maternal grand-aunt and two maternal cousins, they were all affected by edema. Congenital lymphedema of her feet progressed to legs but below the knees. Moreover, she also exhibited bilateral edema of the dorsi of both hands. Dysplastic and upslanting toenails, varicose, prominent veins and hyperkeratosis were also noted. Lymphoscintigraphy showed symmetrical tracer uptake, with a discrete reduction in uptake of tracer within the right groin lymph nodes. 180K aCGH analysis showed a 137 kb interstitial microdeletion within 4q34.3 region encompassing only VEGFC gene. Segregation analysis showed that the deletion was of maternal in origin. The fetus’s grandmother also carried the 4q34.3 deletion.View Large Image Figure ViewerDownload Hi-res image Download (PPT)View Large Image Figure ViewerDownload Hi-res image Download (PPT)View Large Image Figure ViewerDownload Hi-res image Download (PPT) To the best of our knowledge, this is the first prenatal report of VEGFC deletion. Our results reinforce that VEGFC haploinsufficiency is associated with primary Milroy-like lymphedema with incomplete penetrance, inter- and intra-familial variable expressivity, and contribute to add knowledge to the current literature with the description of the prenatal phenotype of Milroy-like disease. Our report also suggests that molecular VEGFC analysis should also be performed in VEGFR3-negative patients with congenital lymphedema.

Abstract 146: Cleidocranial dysplasia: A rare cause of severe short stature

Background: Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplasia due to Runx 2 mutation with 1:1,000,000 incidence, characterized by hypoplastic clavicles, delayed closure of the cranial sutures, dental abnormalities, and short stature.Aims and Objectives: We report a case of 11year old boy presenting with short stature and classical features of cleidocranial dysplasia.Results: A 11 year boy with poor height gain since 2 years of age, was found to have severe disproportionate short stature with deciduous teeth, supernumerary teeth, midfacial hypoplasia, flattened nasal bridge, hypertelorism, high arched palate, short thumbs, clinodactyly and anterior apposition of shoulders. Skeletal survey confirmed these findings, along with Brachycephaly with open fontanelles, clavicular hypoplasia, bell shaped thorax, hypoplasia of the pelvis with widened symphysis pubis, coxa vara, pseudoepiphysis of 2nd metacarpal and severe dental anomalies.Conclusion: A thorough history and examination with radiological support will help in timely diagnosis of CCD in children and adequate treatment.

EP455: Fetal ultrasound presentation and neonatal diagnosis of Freeman-Sheldon syndrome in son of previously undiagnosed adult male

eP455: Fetal ultrasound presentation and neonatal diagnosis of Freeman-Sheldon syndrome in son of previously undiagnosed adult male

EP093: De novo interstitial deletion of chromosome 7p22.1p21.2: A case report

Partial monosomy of the short arm (p) of chromosome 7 is a rare chromosomal disorder associated with a variable phenotype, depending on the size and location of the deleted region. When the deletion involves the interstitial deletion of 7p22.1p21.2 region, literature review describes phenotypic features that include craniosynostosis, microcephaly, ocular hypotelorism or hypertelorism, downslanting palpebral fissures, epicanthal folds, dysplastic ears, depressed nasal bridge, and cleft palate. Abnormalities of the thumbs and feet have been described, and also cardiovascular, renal and genital anomalies.

EP263: A pathogenic deletion at 13q32.1q33.1 presenting with bilateral sensorineural hearing loss and pigmentation anomalies, mimicking Waardenburg syndrome

13q deletion syndrome is caused by structural and functional monosomy of the long arm of chromosome 13. Individuals with partial deletions of 13q have a wide spectrum of clinical phenotypes, including mild to severe intellectual disability, growth retardation, craniofacial dysmorphism, hand and foot anomalies, brain, cardiac and renal defects. Previous reports suggest that deletions including the 13q32 band are associated with severe congenital malformations. The ZIC2 gene maps to this critical distal region at 13q32.2 and has been considered a possible candidate for brain malformations, such as holoprosencephaly and Dandy-Walker malformation. We present an individual with a 7.9 Mb deletion on chromosome 13, encompassing almost all of band q32, with a relatively mild phenotype. An 11-month-old term male was seen in the medical genetic clinic regarding concerns for possible Waardenburg Syndrome. He presented with bilateral sensorineural hearing loss at 9 months of age and was noted to have multiple hypopigmented lesions on both his feet and chest. Prenatal and post- natal course was unremarkable with normal growth and development. Physical examination revealed mild dysmorphic features such as borderline, low set and posteriorly rotated ears with folded upper helixes and a broad nasal bridge. Hypopigmented lesions consistent with leukoderma was noted over the anterior chest wall, abdominal wall and medial aspect of his right thigh. Family history was positive for a maternal cousin with similar hypopigmented lesions and maternal great, great grandmother with early premature graying of hair. There was no family history of congenital hearing loss or birth defects. A chromosomal microarray (CMA) was performed and revealed a 7.9 megabase pathogenic deletion at chromosome 13q32.1q33.1, involving 65 genes. This deletion encompasses the ZIC2 gene which is associated with holoprosencephaly. This was an unexpected finding and further imaging studies to evaluate for cardiac, renal and brain malformations have been planned. Deletions of 13q are rare and additional cases are needed to better understand the genotype-phenotype correlation. We present an atypical case of a 13q deletion syndrome associated with mild dysmorphism, bilateral sensorineural hearing loss and leukoderma. There have been suggestions that distal deletions are associated with a more severe clinical phenotype and proximal deletions causes less severe major anomalies. This case broadens the clinical spectrum of 13q deletion syndrome as hearing loss is an uncommon finding and dermatological involvement has not been previously reported. There have been one prior report indicating that the loss of Zic2 function results in impaired inner ear development in mice and may be a candidate gene that contributes to the genetics of hearing loss in humans. Additionally, although the region deleted on the long arm of chromosome 13 involves the ZIC2 gene, this patient appears to be growing and developing normally. These findings suggest regions outside of band 13q32 likely contribute to the severe congenital malformations previously associated with distal 13q deletions.

Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome.

abstractBiallelic loss‐of‐function (LoF) variants in CENPF gene are responsible for Strømme syndrome, a condition presenting with intestinal atresia, anterior ocular chamber anomalies, and microcephaly. Through an international collaboration, four individuals (three males and one female) carrying CENPF biallelic variants, including two missense variants in homozygous state and four LoF variants, were identified by exome sequencing. All individuals had variable degree of developmental delay/intellectual disability and microcephaly (ranging from −2.9 SDS to −5.6 SDS) and a recognizable pattern of dysmorphic facial features including inverted‐V shaped interrupted eyebrows, epicanthal fold, depressed nasal bridge, and pointed chin. Although one of the cases had duodenal atresia, all four individuals did not have the combination of internal organ malformations of Strømme syndrome (intestinal atresia and anterior eye segment abnormalities). Immunofluorescence analysis on skin fibroblasts on one of the four cases with the antibody for ARL13B that decorates primary cilia revealed shorter primary cilia that are consistent with a ciliary defect. This case‐series of individuals with biallelic CENPF variants suggests the spectrum of clinical manifestations of the disorder that may be related to CENPF variants is broad and can include phenotypes lacking the cardinal features of Strømme syndrome.

EP188: Novel HECW2 variant presenting with tachypnea and multisystemic congenital malformations

HECW2, otherwise known as NEDL2, encodes for a member of the HECT family of E3 ubiquitin ligases and stabilizes p73, a key mediator in neurodevelopment. HECW2 is primarily expressed in the brain, heart, and lungs. Heterozygous variants have been associated with developmental delays, intellectual disability, epilepsy, hypotonia, scoliosis and dysmorphic features. Systemic complications which have been reported include cardiomyopathy, skeletal abnormalities including pectus excavatum, and various brain abnormalities including white matter disease, cortical atrophy, ex-vacuo ventriculomegaly, and thinning of the corpus callosum. While many reported cases of HECW2-related disorder have been from de novo variants, there have been reports of familial inheritance with variable expressivity. To date, there have been no reported cases of HECW2-related disorder presenting with persistent tachypnea. A newborn male with a history of intrauterine growth restriction born at 39 2/7 weeks gestation to a 31 year old G4P0212 mother and a 35 year old father presented in the perinatal period with unexplained persistent tachypnea, difficulty feeding, persistent diaphoresis and failure to thrive. Pectus excavatum was noted at birth and initial evaluation for the persistent tachypnea showed multiple vertebral anomalies, congenital scoliosis and mild cardiomegaly on chest X-ray. Renal ultrasound demonstrated left central calyceal dilation. Echocardiogram and CT heart with contrast demonstrated multiple abnormalities including anomalous pulmonary venous return with right upper pulmonary vein draining into the superior vena cava (SVC), secundum atrial septal defect (ASD), dilated main pulmonary artery, right atrium and ventricle, mild right and left ventricular hypertrophy, mild tricuspid regurgitation and mild to moderate pulmonary regurgitation. CT imaging also demonstrated severe tracheobronchomalacia associated with left mainstem bronchus compression resulting in air trapping within the left lung. Cardiac catheterization was attempted for possible closure of the patient’s secundum ASD, but was unsuccessful due to inability to capture retroaortic rim. Diagnostic evaluation during catheterization demonstrated mild pulmonary hypertension, normal pulmonary vascular resistance (PVR) and a Qp:Qs of 1.9:1 consistent with pulmonary overcirculation. Tachypnea and significantly increased work of breathing persisted despite initiation of furosemide diuresis to manage pulmonary overcirculation. The patient ultimately required BiPap for respiratory support, though tachypnea persisted. A G-tube was placed to ensure safe formula administration. Additional physical exam findings included hypotonia, macrocephaly, infraorbital creases with almond-shaped eyes, ocular hypertelorism, broad nasal bridge and tip, mild retrognathia, arachnodactyly with larger hands and feet compared to growth centiles and Y-shaped gluteal fold. Family history was remarkable for White ancestry. A maternal half-sister was healthy. A 2 year old brother had speech delay. The patient’s father had a history of mild congenital scoliosis, heart murmur and intellectual disability. The patient’s mother had a history of anemia, heart murmur and learning delays. There was no history of genetic conditions, recurrent pregnancy loss, or infant death. Chromosomal microarray analysis (CMA) demonstrated no clinically significant findings (ISCN: arr[hg19](1-22x2,(X,Y)x1). Trio exome sequencing with mitochondrial analysis, performed from a peripheral blood sample, demonstrated a paternally inherited likely pathogenic variant in HECW2 (NM_020760.1:c.2581 C>T) in exon 11. While this variant has not been previously published as benign or pathogenic, in silico analysis demonstrated a potential deleterious effect of the arginine to tryptophan substitution on structure and/or function. Mitochondrial analysis was negative/normal. We present the first documented case of HECW2-related disorder presenting with perinatal tachypnea. The patient’s hypotonia, feeding difficulties, dysmorphic features, pectus excavatum, vertebral malformations, scoliosis, and cardiac involvement correlate with previously described manifestations of HECW2-related disorder.

EP459: Rare clinical gene variant of SOX9: Acampomelic campomelic dysplasia

eP459: Rare clinical gene variant of SOX9: Acampomelic campomelic dysplasia

Impact in Contact Dermatitis during and after SARS-CoV2 Pandemic.

Purpose of the reviewDue to the recent COVID-19 pandemic, several skin conditions have emerged due to the preventive measures adopted by both health care workers and the general population against SARS-CoV-2. Above all, wearing of personal protective equipment, frequent hand-washing and disinfecting of surfaces have resulted in an increased risk of irritant or allergic contact dermatitis. The aim of this review is to investigate contact dermatitis associated with COVID-19 pandemic period.Recent findingsThere is a real evidence of the rising prevalence of irritant and allergic contact dermatitis in response to the COVID-19 pandemic. The most commonly recorded symptoms are dryness, itch and redness of the skin. Nasal bridge, cheeks, forehead and hands represent the mainly affected skin sites.SummaryContact dermatitis lesions may appear as a result of various recommendations to prevent transmission of COVID-19. Procedures to alleviate pressure and friction, gentle skin care and adequate moisturizing, have been identified as important preventive strategies for contact dermatitis related to personal protective equipment and personal hygiene measures.

Anesthetic management in a child with Coffin Siris syndrome.

Dear Editor, An 8-year-old boy with ARID1B-CSS Coffin Siris Syndrome (CSS) presented with left inguinal hernia for herniotomy. The child had an uneventful neonatal period but developed recurrent upper respiratory tract infection at 2 months of age requiring frequent hospitalization. He also developed an intellectual disability, hyperactivity, and seizure disorder. Evaluated as a floppy infant, genetic workup revealed ARID1B and SOX11 gene mutation associated with CSS. He had a hypoplastic fifth finger in his hands, bushy eyebrows, everted lips, coarse facies, hypertrichosis, hypotonia, micrognathia, macroglossia, and high arched palate [Figure 1].Figure 1: (a) Note bushy eyebrows, coarse facies, hypertrichosis, everted lips, macroglossia, low anterior hairline, prominent ears (b) Hypoplastic fifth finger (c) Airway secured with Size 2 i-GelOn examination, the child was anxious, aggressive, and distracted. He was premedicated with oral midazolam 30 min prior and induced with sevoflurane. After achieving end-tidal concentration of 2.5%, iv cannula was placed and airway secured with size-2 i-Gel. The patient was maintained with sevoflurane at MAC 1-1.2 and pressure support ventilation (PSV-Pro, GE Datex Ohmeda, Aspire View). No opioids or muscle relaxant was used. Ultrasound-guided ilioinguinal and iliohypogastric nerve block (IIN/IHN) was given. At the end of the surgery, i-Gel was removed deep after ascertaining adequacy of ventilation. The patient was observed for 24 h before discharge. CSS (OMIM 135900), first described by Coffin GS, is a rare genetic condition caused by mutations in the ARID1B gene with a prevalence of <1:100000 and equal male-female preponderance.[1,2] Known as “fifth digit syndrome,” CSS is characterized by moderate to severe intellectual disability, absent or hypoplastic terminal phalanx of the fifth digit, craniofacial abnormalities, coarse facies, hypertrichosis, hypotonia, short neck, irregular and protruding teeth, wide nose with low nasal bridge, macroglossia, micrognathia, and high arched palate.[2] These features lead to feeding difficulties, recurrent respiratory tract infections during infancy owing to micro-aspirations, and pose a risk of transient apnea/laryngospasm in the perioperative period. Combined with facial dysmorphism, these factors present a difficult airway scenario. Awake flexible fiber-optic intubation is the best approach but possible in compliant patients only. In our case, the child was uncooperative and aggressive due to mental retardation, and the surgery did not necessitate tracheal intubation. Therefore, we used supra-glottic airway (i-Gel) while preserving spontaneous respiration. Numerous case reports have described the genotypic and phenotypic profile of CSS; however, few have described anesthetic management of patients with CSS, the details of which are mentioned in Table 1.[3–5] Spinal abnormalities such as spina bifida, scoliosis, etc., have been associated with CSS. Although no such abnormalities were found in our patient, we did not contemplate neuraxial block in our patient as IIN/IHN has proven to be equal or more efficacious and safer than caudal/central neuraxial block. Moreover, opioid-free anesthesia led to a faster and smoother recovery.Table 1: Airway management Techniques reported in patients with CSSCSS is a rare congenital syndrome with distinct craniofacial anomalies and mental retardation presenting a challenging scenario to the anesthesiologist in the perioperative period. Detailed insight of the child’s condition, thorough preoperative workup, and difficult airway preparedness are essential. Supra-glottic airway device presents an important tool in the armamentarium of anesthesiologist and a viable and easy alternative to flexible fiber-optic intubation for successful management of such cases. Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.

A novel de novo frameshift variation in the SON gene causing severe global developmental delay and seizures in a Chinese female.

With the rapid development of genetic detection technology, especially next-generation sequencing, identification of the aetiology of unexplained intellectual disabilities accompanied by seizures and other dysmorphic features has become possible. The purpose of our paper is to make a definitive diagnosis of a girl with neonatal hypotonia, severe global developmental delay, seizures and mild facial dysmorphism. The clinical data of the patient were retrospectively studied. Whole-exome sequencing was performed on a blood sample from the patient. Subsequently, Sanger sequencing was utilized for validation of variants and parental validation. The patient had hypotonia since the neonatal period. She showed a significant delay in physical and psychomotor development. She did not have any speech until the age of 2years and 6months. She had seizures that were easy to control with levetiracetam. The craniocerebral magnetic resonance imaging (MRI) then showed mild delayed myelination, enlarged bilateral ventricles and widened frontotemporal extracerebral space. Interictal video electroencephalogram (VEEG) was normal. She had esotropia and mild facial abnormalities with a flat nasal bridge and a short nose. She showed no abnormalities in the heart, genitourinary or skeletal systems. Whole-exome sequencing revealed a novel de novo variant c.5334_5335delAG (p. Arg1778Serfs*11) in the SON gene. Our paper reports a novel variant in the SON gene and provides a definitive diagnosis of a female with neonatal hypotonia, severe global developmental delay, seizures and mild facial abnormalities, which are symptoms consistent with Zhu-Tokita-Takenouchi-Kim syndrome (ZTTK syndrome).

Impact of Taping The Upper Mask Edge On Ocular Surface Stability and Dry Eye Symptoms

To evaluate the impact of taping the upper mask edge on ocular surface stability, dry eye symptomology, and tear osmolarity in N95 mask users. Prospective interventional before-and-after study. Fifty eyes of 50 health care workers regularly using N95 masks were included. Preintervention, ocular surface parameters, subjective dry eye score, and visual acuity were assessed at the end of an 8-hour shift when the subjects used an N95 face mask without taping the upper edge. Next day, the upper edge of the N95 mask was taped to the nasal bridge in all subjects at the beginning of the 8-hour shift, and postintervention assessment was performed after the shift. The primary outcome measure was change in noninvasive tear break-up time (NIBUT). Secondary outcome measures were change in the symptom score, tear lipid layer thickness (LLT), tear break-up time (TBUT), Schirmer I test, tear meniscus height (TMH), osmolarity, and visual acuity. Mean age of the cohort was 26.7 ± 3.67 years. Post-taping, significantly better ocular surface stability was observed in terms of NIBUT (P < .001), TBUT (P < .001), LLT (P < .001), TMH (P=.01), corneal staining score (P=.001), and tear osmolarity (P=.04). There was no significant change in visual acuity, Schirmer I, and Ocular Surface Disease Index score (P > .05). Symptom improvement was reported by 68% patients (SANDE version 2), which correlated well with change in NIBUT (r=0.38; P=.005), TMH (r=0.37; P=.007), LLT (r=0.35; P=.01), and TBUT (r=0.28; P=.04). Taping of the upper mask edge resulted in significantly better ocular surface stability, which correlated well with decrease in dry eye symptoms.

Esquirol-Séguin-Down Syndrome Associated with Atrial Septal Defect plus Tricuspid Regurgitation

Background: Esquirol-Séguin-Down syndrome (Trisomy 21) was first described by Jean-Etienne Dominique Esquirol in 1838 and later by Edouard Séguin in 1846. Thereafter, in 1862, John Langdon Down, a British physician emphasized that the syndrome is a distinct form of mental retardation. Congenital cardiac defects are observed in more than one third of the patients with Esquirol-Séguin-Down syndrome, and in approximately 80% these cardiac defects are atrioventricular septal defect or ventricular septal defect with the former being more common. The association of Esquirol-Séguin-Down syndrome with atrial septal defect plus tricuspid regurgitation has been rarely reported. The aim of this paper is to report the rare association of Esquirol-Séguin-Down syndrome with atrial septal defect plus tricuspid regurgitation. Patients and methods: Two and half years old boy with Esquirol-Séguin-Down syndrome, developmental delay and abnormal echocardiography was studied, and the recent relevant literatures were reviewed. Results: Dysmorphic facial features included hypertelorism, oblique palpebral fissures, epicanthic folds, depressed nasal bridge and low set ears. Echocardiography showed atrial septal defect with tricuspid regurgitation. Conclusion: This paper reports the first case of Esquirol-Séguin-Down syndrome in Iraq associated with atrial septal defect plus tricuspid regurgitation.

Commentary: A technical revisit to the glabellar flap.

We have read an interesting article by Balchev et al. published in the current issue of IJO. They included 15 patients who were followed up over 36 months. The authors have described the use of glabellar flap (GF) to reconstruct medial canthal region defects. They have categorized the medial canthal region into the upper, medial, and lower zone in reference to the medial canthal tendon. They used V-Y glabellar rotation, advancement, or combined transposition flap techniques. By definition, the glabella is a region between the eyebrows that has potential skin to reconstruct surrounding areas like the medial canthus and nose.[1] The glabellar myocutaneous flap is a simple, safe, and effective procedure that provides anterior lamellae and vascular supply to the reconstructed region.[12] The advantages being similar skin color, texture, and thickness with minimal postoperative flap shrinkage or contracture.[123] Moreover, the vascular supply leads to faster healing with minimal collateral damage. Maloof and Leatherbarrow[4] (2000) provided a detailed description of the GF. They conceptualized the idea of anatomical and surgical medial canthus, the latter being much larger in area. The surgical medial canthus extended from the subbrow region (superior) to the upper cheek (inferior) and medially up to the midline over the nose. They believed that any reconstruction of surgical medial canthus could be performed using a glabellar V-Y flap. The critical factors in preoperative planning of GF include[4]: Size, depth, and location of the defect Orientation and alignment of the V-Y flap Depth of the medial canthus or nasal bridge prominence Age and skin texture of the patient. The smaller, shallower, and medial defects have favorable outcomes. The prominent nasal bridge or deep medial canthus will need a longer flap to reach up to the lateral edge of the defect. Younger patients have tighter skin that may have intraoperative implications. Skin marking is a vital part of the GF harvesting process. After the surgical excision of the lesion and determining its tumor-free margins, a surgical marker pen is used to draw the triangular or rectangular GF. The flap size depends on the size of the defect, distance from the glabella, and the depth of the medial canthus.[1234] The first arm of the V-shaped GF, arises tangentially from the superolateral edge of the defect, passes superomedial toward the midline apex. The second arm (preferably curved in shape) is fashioned at an acute angle, and its length is kept slightly longer to accommodate the bend of flap tissue [Fig. 1]. The flap should have a broad base for better vascular supply. The dissection should be limited to the skin and subcutaneous tissue, avoiding the involvement of corrugators and procerus muscles. The suture fixation of the flap base to the underlying periosteum prevents traction and preserves canthal concavity. The donor site should be closed in two layers—the deeper muscular layer (4-0 or 5-0 absorbable sutures) and the skin with 4-0 or 5-0 prolene or nylon (preferably horizontal mattress sutures). For larger defects, the extended, modified advancement flap, rotational flap, or bilobed GF can be used.[145]Figure 1: A glabellar flap fashioned for the reconstruction of left medial canthus lesion showing the first and second arms with a broad baseThe complex scenarios that may compromise the outcomes of GF include[4]: Young patients with tight forehead and facial skin Very deep medial canthus Dense hairs in-between eyebrows (synophrys) Large and irregular defect extending more laterally or inferiorly. The limitations of GF include consecutive midline forehead scar, medialization of the eyebrows, lymphedema, and flap uptake-related complications (necrosis, infection, etc.).[45] Nevertheless, the GF and its modifications constitute a simple, reproducible, and efficient technique providing excellent skin color match with satisfactory aesthetic and functional outcomes.[3]

Respirators and Surgical Masks Artefacts on Phantom using Magnetic Resonance Imaging during COVID-19: A Cross-sectional Study

Introduction: It is suitable for a patient to wear a respirator or face mask during any radiological investigation during Severe Acute Respiratory Syndrome Corona Virus 2 (SARS-CoV-2) pandemic. Some face masks may have nanoparticles, or antimicrobial coating, which may comprise metal to help shape the mask according to user face shape. This kind of ferromagnetic substances can cause artefacts in the image. Aim: To detect and compare the artefacts while using different types of respirators and surgical masks in the Magnetic Resonance Imaging (MRI) phantom images. Materials and Methods: This was a prospective cross-sectional study which was conducted from July 2021-September 2021. Two Not resistant to oil-based aerosols with 95% efficiency to airborne particles (N95) respirators and two types of three-ply surgical disposable masks with a metal and plastic nose holder were used. The N95 respirators were of Halo N95 Filtering Facepiece 2 Particulate Matter (FFP2) PM 2.5 and Suchi N95 S-7400, while the surgical masks were from Venus 3 ply V-1010 with a metal nose holder and the Thea Tex Filtra 3 ply with plastic nose holder. A polymethyl methacrylate plastic phantom was used with 1.5 Tesla (Siemens Magnetom Avanto) MRI scanner for imaging. Results: When exposed to the metal detector both N95 respirators and one of the surgical masks with a metal nose clip showed strong ferromagnetic attraction. Both respirators and a surgical mask with a metal nasal holder showed magnetic susceptibility artefacts. The signal loss is caused by dephasing of spins from metal strip on the image. Conclusion: All the patients must have a recognised MR safe masks prior to an MRI investigation. When this is not possible to follow, metallic components from the face mask should be removed before the patient's arrival at the MR room. After removing the metal strip from the mask, the paper tape may be applied across the nasal bridge region for adequate transmission control and to maintain the intended function of the mask. The mask with a plastic nasal holder was ideal to use in an MR environment since it doesn’t have any distortion in the image.

A Floppy Infant with Facial Dysmorphism.

A Floppy Infant with Facial Dysmorphism.