Dysplasia Syndrome Research Articles

Patients With a High Femoroepiphyseal Roof With Concomitant Borderline Hip Dysplasia and Femoroacetabular Impingement Syndrome Do Not Demonstrate Inferior Outcomes Following Arthroscopic Hip Surgery

The purpose of this study was to compare outcomes after hip arthroscopy for femoroacetabular impingement syndrome (FAIS) in patients with borderline hip dysplasia and hip instability defined radiographically using the femoroepiphyseal acetabular roof (FEAR) index and in patients without radiographic evidence of hip instability. Data from consecutive patients with borderline hip dysplasia (lateral center edge angle between 18˚-25˚) who underwent primary hip arthroscopy between April 2012 and June 2017 for the treatment of FAIS were analyzed. Baseline demographic data, radiographic parameters, preoperative, and 2-year postoperative patient-reported outcome measures were collected. The FEAR index was measured by 3 different observers. Patients with an average FEAR index ≥2˚ were categorized as having radiographic evidence of instability as previously published. The analysis was powered to detect a minimal clinically important difference (MCID) for each outcome score. Statistical analysis was performed as appropriate to compare patients with FEAR index ≥2 and <2°. A total of 140 patients met the inclusion criteria. The average age and body mass index of included patients was 31.7 ± 13.2 (P < .325) years and 25.1 ± 5.6 kg/m2 (P < .862). There were no statistically significant demographic differences between the groups. Nineteen (13.0%) patients were found to have a FEAR index of over 2˚. The FEAR index <2° and FEAR index ≥2° groups had a mean preoperative FEAR index (standard deviation, range) of-7.0 (5.2,-26.8 to 1.9) and 4.8 (2.5, 2.0-11.8), respectively. The interrater intraclass correlation coefficient was 0.96. Postoperative patient-reported outcomes and rates of MCID and patient-acceptable symptomatic state achievement were not statistically different between the radiographically stable and unstable groups. (p>0.05 for all). Patients with borderline hip dysplasia and radiographic evidence of hip instability, as measured by the FEAR index (≥2°), achieve similar improvement in 2-year outcomes compared to those with radiographically stable hips after arthroscopic treatment of FAIS. Retrospective Level III cohort study.

Analysis of current approaches to the treatment and quality of life improvement in patients with gastroesophageal reflux disease in case of its combination with the syndrome of undifferentiated connective tissue dysplasia

When the structure of the connective tissue is disturbed, the probability of developing pathology of the internal organs increases. The gastrointestinal tract is one of the systems that is most often involved in the pathological process in the case of such disorders. Due to its mesenchymal origin, the esophagus is one of the first to suffer.&#x0D; Normalization of mineral metabolism, correction of immunological and bioenergetic status are the main tasks in the treatment of such patients. Therapy with magnesium drugs, vitamins, anabolic drugs, ?-blockers, aldosterone antagonists, and amino acid drugs should also be used for this purpose. Patients in this group should also take drugs that contain vitamin D3

VP18.09: Quantification of craniofacial abnormalities in thanatophoric dysplasia and Cornelia de lange syndrome from three‐dimensional ultrasound

VP18.09: Quantification of craniofacial abnormalities in thanatophoric dysplasia and Cornelia de lange syndrome from three‐dimensional ultrasound

324 Improvement of epidermal covering on AEC patients with severe skin erosions by PRIMA-1MET

P63 is a major transcription factor regulating skin development and homeostasis : cell proliferation, adhesion, and early differentiation. P63 is mutated in several rare syndromes called p63-related ectodermal dysplasia syndromes (ED). One of the main form, called AEC syndrome, associates ankyloblepharon, clef/lip palate, ED, and severe skin erosions that not always heal. P63 belongs to the p53 gene family. We found that ED-iPSC epidermal commitment can be rescued by a p53-reactivating compounds called PRIMA-1MET currently used in anticancer clinical trials.

Офтальмологічні критерії синдрому недиференційованої дисплазії сполучної тканини у дітей з набутою міопією

Метою роботи було визначення офтальмологічних критеріїв синдрому недиференційованої дисплазії сполучної тканини у дітей з набутою міопією. Встановлено, що головними офтальмологічними критеріями зорового аналізатора, які дозволяють проводити дискримінацію при набутій міопії між наявністю синдрому недиференційованої дисплазії сполучної тканини та його відсутністю з точками порогу класифікації, є показник заломлюючої сили рогівки ≤ 41,5 дптр (чутливість 88 %, специфічність 90 %), глибина передньої камери ока ≥ 3,88 мм (чутливість 87 %, специфічність 78 %), діаметр рогівки ≥ 11,85 мм (чутливість 90 %, специфічність 87 %).

Содержание минеральных компонентов в ротовой жидкости у детей с синдромом недифференцированной дисплазии соединительной ткани и их влияние на кариесрезистентность эмали зубов

Актуальность. Резистентность зубов к кариесу может быть связана с морфологическим строением эмали, обусловливающим изменение ее основных свойств (кислотоустойчивость, проницаемость, микротвердость). Среди множества характеристик структуры эмали, влияющих на уровень ее кариесрезистентности, выделяют качество минерализации. На минерализацию органического костного матрикса, коллагенообразование, функциональное состояние костных клеток, обмен витамина D, а также на рост кристалла гидроксиапатита непосредственно влияет магний. С физиологической точки зрения до 53 % магния концентрируется в костной ткани, дентине и эмали зубов. Магнию принадлежит существенная роль в формировании нормальной структуры соединительной ткани, и одним из этиологических факторов формирования дисплазии соединительной ткани является нарушение его гомеостаза. Цель исследования: определить содержание минеральных компонентов в ротовой жидкости у детей с синдромом недифференцированной дисплазии соединительной ткани и выявить их взаимосвязь с показателями кариесрезистентности эмали зубов. Материалы и методы. Осмотрено 50 детей в возрасте 10–12 лет. С помощью биохимических исследований определяли содержание концентрации кальция и магния в ротовой жидкости. Кариесрезистентность эмали зубов определяли с помощью теста эмалевой резистентности по В.Р. Окушко. Статистическая обработка данных проводилась с помощью пакетов Statistica 6.0 и StatPlus 5.9. Дети были разделены на две группы: группа I — основная (с синдромом недифференцированной дисплазии соединительной ткани, 30 человек) и группа II — контрольная (условно здоровые дети, с высокой кариесрезистентностью, 20 человек). Результаты. Средние результаты минеральных компонентов были гораздо ниже в основной группе, чем в контрольной: концентрация Са составила 0,88 и 1,23 ммоль/л соответственно, а Mg — 0,25 и 0,44 ммоль/л. Средние результаты теста эмалевой резистентности составили 5,83 и 4,15 балла в основной и контрольной группах соответственно. Показатели концентрации кальция в ротовой жидкости основной группы по сравнению с контрольной снижены на 28,5 %, а содержание магния меньше на 43,2 %. Данные теста эмалевой резистентности показали, что результаты в основной группе на 28,8 % ниже, чем в контрольной. Заключение. В основной группе концентрация Са и Mg в дефиците, и дети этой группы нуждаются в коррекции содержания указанных микроэлементов. Недостаточное количество содержания кальция и магния в организме ребенка приводит к нарушению строения эмали, что негативно отражается на кариес­устойчивости эмали зубов.

Congenital Disorders of Deficiency in Glycosaminoglycan Biosynthesis.

Glycosaminoglycans (GAGs) including chondroitin sulfate, dermatan sulfate, and heparan sulfate are covalently attached to specific core proteins to form proteoglycans, which are distributed at the cell surface as well as in the extracellular matrix. Proteoglycans and GAGs have been demonstrated to exhibit a variety of physiological functions such as construction of the extracellular matrix, tissue development, and cell signaling through interactions with extracellular matrix components, morphogens, cytokines, and growth factors. Not only connective tissue disorders including skeletal dysplasia, chondrodysplasia, multiple exostoses, and Ehlers-Danlos syndrome, but also heart and kidney defects, immune deficiencies, and neurological abnormalities have been shown to be caused by defects in GAGs as well as core proteins of proteoglycans. These findings indicate that GAGs and proteoglycans are essential for human development in major organs. The glycobiological aspects of congenital disorders caused by defects in GAG-biosynthetic enzymes including specific glysocyltransferases, epimerases, and sulfotransferases, in addition to core proteins of proteoglycans will be comprehensively discussed based on the literature to date.

"Portrait" of patients with pulmonary hypertension, associated with mitral valve diseases before cardiac surgery

Aim. To study “the portrait” of patients with acquired mitral valve (MV) heart disease of various origins and pulmonary hypertension hospitalized for surgical correction of the defect.Methods. The study included 97 patients with acquired diseases of mitral valve and pulmonary hypertension. The assessment of demographic, clinical and anamnestic data, indicators of transthoracic echocardiography, quality of life before the correction of MV defect was carried out.Results. The studied cohort is mostly represented by female patients (n = 70; 72.2%). The most common cause of mitral valve disease was rheumatic heart disease (n = 40; 41.2%). Overweight, hypertension (n = 76; 78.4%) and atrial fibrillation (n = 62; 63.9%) were the most common comorbidities. The mean pressure level in the pulmonary artery according to echocardiography was 35.5 (29.0; 40.0) mm Hg, with no significant difference among the patients, regardless the mitral defect etiology. Less pronounced remodeling of the left ventricle was noted in patients with rheumatic heart disease, which is caused by a lesion of the MV by the type of stenosis in contrast to patients with connective tissue dysplasia syndrome or against the background of detachment of MV chords with MV damage in the form of its insufficiency. There were no significant differences in the systolic function of the right ventricle depending on the etiology of MV defect.Conclusion. The “portrait” of a patient with pulmonary hypertension associated with an acquired mitral valve defect before its correction is the predominance of female, overweight, with II or III functional class of chronic heart failure, more frequent rheumatic genesis of MV defect, the presence of concomitant pathology in the form of hypertension and persistent atrial fibrillation, and increased size of the left atrium and left ventricle, reduced systolic function of the right ventricle according to the data of Echocardiography.

The Oral Cavity Connective Tissue Dysplasia in Different Ages Children

To study the role of connective tissue dysplasia syndrome in children in the occurrence of oral diseases. 104 children with oral cavity pathology were on treatment during 2019-2020 in hospital. Aged from 5 to 17 years. All children had diseases of the digestive tract, were on dynamic observation at primary health care level. The control group consisted of 36 almost healthy children. comparable in age and sex. verified diagnosis, patient consent, absence of concomitant decompensated and sub compensated states. Connective tissue dysplasia of the oral cavity was more often in the control group (54.8%) comparing with the comparison group (19.4%, p<0.05), and more often among boys (32.6%) compared with girls (22.1%). The most common stigmas: gothic palate (26.2%), flat palate (21.5%), impaired growth and development of the jaws (24.5%), abnormalities in the permanent teeth eruption (11.3%), short frenum of the tongue (10.4%), folded tongue (6.1%). The level of stigma in 45.6% of children - 3 stigmas, 31.6% - 3–4 stigmas, and 22.8% - more than 5 oral stigmas. Among the children of the comparison group, the most common was the gothic palate (11.1%, p<0.05), short frenum (5.5%, p<0.05), flat palate (2.8%, p<0.05). Probably, a significant prevalence of connective tissue dysplasia of the oral cavity organs, formed prenatally, can be markers of chronic somatic diseases.

Important of Morphological Examination of Bone Marrow for a Hematological and Non-Hematological Disorder

Background: The bone marrow examination is important for the investigation, diagnosis, and managementof the blood, bone marrow and many systemic disorders. Morphological Bone marrow examination alone issufficient to diagnose nutritional anemias and most acute leukemia.This study aimed to determine the importance of morphological examination of bone marrow to diagnosehematological and non-hematological disorders like various systemic illnesses that affect the bone marrow.Methods: A prospective study carried out for one year at the Hematology lab, Ninava Ibn Sena TeachingHospital, A total of 201 cases were investigated. The bone marrow examination was taken from the posteriorsuperior iliac spine.Results: The age range was (15-87) years. The male-to-female ratio was 1:1.2. The most common disorderfinding was acute leukemia 17% (include AML &amp; ALL) and AML is more common than ALL, whereaslymphoproliferative disorders was second bone marrow finding fallowed by Megaloblastic anemia ofMyeloid dysplasia syndrome (MDS) and Essential thrombocythemia (ET).Conclusion: Morphological bone marrow examination is a useful procedure in ascertaining the diagnosis ofseveral hematological and non-hematological disorders.

A case of hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome with kidney failure and recurrent pancreatitis: Answers.

A case of hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome with kidney failure and recurrent pancreatitis: Answers.

A case of hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome with kidney failure and recurrent pancreatitis: Questions.

A case of hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome with kidney failure and recurrent pancreatitis: Questions.

Molecular basis of ectodermal dysplasia

Ectodermal dysplasia (ED) syndrome is a rare genetic disease that involves a heterogeneous group of hereditary disorders that occur as a result of mutations in genes that code for development of fetal ectoderm and lead to numerous disorders. Defects in the development of the ectoderm cause symptoms in tissues derived from the ectoderm layer, such as skin, nails, hair, and teeth. Because many pathways are involved in the development of the ectoderm, there are mutations in many genes that cause ED. Owing to the heterogeneity of ED, there are different types of the disease that have different symptoms. These symptoms include sparse hair, abnormal or missing teeth, nail dystrophy, lack of sweating owing to the absence of sweat glands, and cancer. In this review, in addition to discussing the role and pathway of each of the genes involved in ED, the incidence of cancer in these patients, diagnostic methods and differentiation from other similar diseases, and the treatments currently being performed for ED are discussed.

A Review of campomelic dysplasia syndrome

Campomelic dysplasia (CD) is a rare autosomal dominant genetic disorder and severe skeletal dysplasia. It is characterized by a variable relationship between skeletal and extra-skeletal abnormalities: congenital tightness and long bone arches, pelvic and chest abnormalities, eleven pairs of ribs instead of the usual twelve, facial deformities, cracks and sexual ambiguity. The appearance of pelvic joints, horseshoe inversion, pulmonary hypoplasia, abnormalities of the neck and cervical spine, as well as heart and kidney abnormalities also indicate this syndrome. Other findings of the CD include sexual reversals, in which males have chromosomes, but in some individuals have female genitalia and reproductive systems. The CD is caused by a de novo mutation in the SRY box containing gene 9 (SOX9), which is the main regulator of the development of the cartilage skeleton. It plays an important role in the selection and differentiation of mesenic cells of the chondrocyte lineage of all components of the cartilage skeleton. Most affected individuals have recognizable mutations. It has been reported that heterozigosity involves mutations involving missene, meaningless mutations, deletions in the coding area, and mutations that sometimes interfere with the reorganity of chromosomes in the SOX9 regulatory area. Loss or loss of control over this regulatory area around SOX9 may explain the level of craniophaasial defects described in CD syndrome. We outline the clinical picture, treatment and spectrum of mutations involved in CD syndrome. However, more research is needed to determine the effects of SOX9 on the binding of other genes that function well or are unknown on cartilage.

Lack of Catch-Up Growth with Growth Hormone Treatment in a Child Born Small for Gestational Age Leading to a Diagnosis of Noonan Syndrome with a Pathogenic PTPN11 Variant

Background Growth hormone (GH) treatment increases the adult height of short children born small for gestational age (SGA). Catch-up growth is associated with a younger age, shorter height, and prepubertal status at the onset of GH treatment. We report a 12 11/12-year-old girl born SGA who received GH for 5 years without catch-up growth and was diagnosed with Noonan Syndrome (NS). Results A 5-year-and-9-month-old 46, XX girl born SGA was started on GH treatment at a dose of 0.32 mg/kg/week. Her midparental target height is 158.6 cm. Endocrine work up showed an IGF-1 level 69 ng/ml (Normal (N): 55–238 ng/ml), IGFBP3 2.6 mg/L (N: 1.9–5.2 mg/L), TSH 3.2 mIU/L (N: 0.35–5.5 mIU/L), and a normal skeletal survey. Height was 96 cm (0.1%; Ht SDS −2.9), weight 14 kgs (1%; Wt SDS −2.3), and Tanner 1 breast and pubic hair were observed. Due to the poor catch-up growth on GH treatment, she was referred to Genetics to elucidate genetic or syndromic causes of short stature. She was noted to have posteriorly rotated ears and slight down slanting of the palpebral fissures. Genetic findings showed a heterozygous pathogenic variant in PTPN11 (c.922A > G (p.Asn308Asp)) diagnostic for NS. This finding is de novo given negative parental testing. She was noted to have a heterozygous missense variant of unknown significance (VUS) in FGFR3: c.746C > A (p.Ser249Tyr). FGFR3 is associated with multiple skeletal dysplasias including thanatophoric dysplasia, achondroplasia, and Crouzon syndrome and hypochondroplasia. Clinical correlation is poor for these syndromes. Conclusion Diminished catch-up growth and response to GH treatment in a child born SGA led to the diagnosis of NS. The concomitant diagnosis of SGA and NS may have affected the responsiveness of this child to the growth promoting effect of GH treatment.

A Novel Homozygous Variant in GJA1 Causing a Hallermann-Streiff/Oculodentodigital Dysplasia Overlapping Phenotype: A Clinical Report

This paper reports the case of a Moroccan girl with a phenotype within the clinical spectrum of both Hallermann-Streiff (HSS, OMIM 234100) and Oculodentodigital Dysplasia (ODDD, OMIM 164200) syndromes. The patient presented with repeated dental abscesses and severe early childhood caries. She had no learning deficit nor psychomotor regression; however, a language delay was noted. She also presented with obstructive sleep apnea syndrome and specific craniofacial features pathognomonic of HSS. Radiographic examination showed enamel and dentin defects, giving a ghost-like tooth appearance. Several clinical features of ODDD overlap those of HSS and may confuse diagnosis, considering that the inheritance of HSS is not described yet. The diagnostic odyssey of this patient ended with the identification by exome sequencing of a novel homozygous alteration in the GJA1 gene. A missense substitution in exon 2 [Chr6(GRCh37): g.121768554C&amp;gt;G NM_000165.4: c.561C&amp;gt;G p.Cys187Trp] was identified by whole-exome sequencing (WES), suggesting a diagnosis of ODDD. This is the first report of a homozygous mutation affecting the second extracellular loop of the CX43 protein.

A Novel GATA3 Variant Causing Familial Hypoparathyroidism, Renal Agenesis and Sensorineural Deafness Presenting With Atypical Symptoms of Chronic Hypocalcaemia

Introduction: Familial hypoparathyroidism is a rare cause of hypocalcaemia. We report a case of long-standing hypocalcaemia secondary to hypoparathyroidism caused by a novel GATA3 variant resulting in multiple organ involvement. Case: A 20 year old girl was referred to our bone metabolic clinic for hypocalcaemia. Her past medical history included Bechet’s disease, epilepsy and depression. She had bilateral sensorineural hearing loss and encephalitis as a child. She underwent right nephrectomy for an atrophic non-functioning kidney at the age of 16. Current medication included hydroxychloroquine, diazepam, oral calcium and cholecalciferol. It was noted that the hypocalcaemia dated back to 8 years, she denied any typical symptoms of hypocalcaemia but she did report visual and auditory hallucinations, fatigue and had low seizure threshold. She sustained recurrent fractures of her arm, elbow and wrist. Initial investigations: Corrected calcium 1.88 (2.20-2.60mmol/L), Phosphate 1.54 (0.80–1.50mmol/L), PTH 1.2 (1.6–6.9pmol/), 25-OH vitamin D 37 (50-120nmol/L). Myeloma screen, thyroid, renal and liver functions were all within the normal reference range. Other bone markers: Serum Procollagen Type 1 Amino Terminal Peptide was mildly raised at 82 (19-69ug/L), CTX 0.42 (0.1-0.5ug/L), 1,25 OH Vitamin D 29 (55-139pmol/L), 24,25-dihydroxyvitamin D was normal with normal 25:24,25 Dihyroxyvitamin D ratio at 18 normal. Bone density was in the normal range for her age. MRI of the brain was normal with no evidence of calcification. There was a family history of hypocalcemia in her estranged father. Subsequent genetic analysis showed a novel likely pathogenic GATA3 missense variant (c.961T>C p.(Cys321Arg). She was started on alfacalcidol and achieved near normocalcemia with adjusted calcium levels of 2.18nmol/L. Conclusion: Pathogenic variants in the GATA3 gene are responsible for Hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome. In our patient, a novel missense variant in GATA3, p.(Cys321Arg), has been detected. This variant disrupts one of four conserved cysteine residues within a zinc-finger domain, which is involved in DNA binding and is presumed to have a deleterious effect on protein function. Patients may have longstanding asymptomatic hypocalcaemia with atypical features hence genetic testing is recommended in patient with multi-organ involvement. Alfacalcidol successfully restored calcium homeostasis in this case.

Challenges in the Diagnosis and Consequential Management of Patients 46, XY DSD

Abstract Background: Disorders of sex development (DSD) are clinical conditions that cause an incongruity between the chromosomal and phenotypic sex of an individual. A high variable group of congenital disorders can arise depending upon the timing and location of defect involved in sex determination and differentiation. 46, XY DSD occurs in 1:20,0000 male births; with external genitalia ranging from ambiguous to normal female. Such conditions can be psychologically stressful for patients and their families and have been historically difficult to diagnose, especially at genetic level. Failure to diagnose exact mutation may make the therapeutic approach, genetic counseling and risk assessment even more challenging. Clinical case: Full term baby is born to non -consanguineous parents after an uneventful pregnancy. Mother denied any history of acne/hirsutism, hormone or substance use during pregnancy. At birth, external genitalia showed non-rugated labia majora with posterior fusion, absence of labia minora and vaginal opening. Enlarged clitoris/ Penile like structure measuring 1.5 cm with palpable corpora and hypospadias was present. No palpable gonads were appreciated. No other dysmorphic features were present and rest of the physical exam was unremarkable. Cosyntropin stim test on day 4 of life showed appropriate adrenal response. Pelvic ultrasound and MRI showed an elongated structure posterior to the bladder presumably uterus with no identifiable gonads. Chromosome analysis revealed an XY karyotype. FISH for SRY and microarray were unremarkable. Further testing at 4 weeks of life showed sub optimal elevation of Gonadotropins and Testosterone. Female gender was assigned due to parents’ preference and endocrine/ Urology recommendations. The 46,XY DSD genetic panel including testing for non-syndromic DSD, steroid abnormalities, skeletal dysplasia syndromes, and multiple malformation syndromes was unremarkable. Conclusion: Although a number of cytogenetic or single-gene defects have been associated with DSD, the true incidence of pathogenic variants has not been established. Many cases of 46, XY DSD remain unexplained likely due to an unidentified pathogenic variant of genes not routinely included in the panel or not yet identified to be associated with DSD. Without a clear diagnosis, genetic counseling and risk assessment is difficult. Parents should be informed about future options regarding sexual development, hormonal therapy and surgical treatments available. The determination of social sex must be made in consideration of underlying possible etiology, phenotypic sex, ethnic traditions, sexual identity and the acceptance of the assigned social sex by the parents. The affected child and his/her family must be followed throughout life to determine the patient’s adjustment to his/her social sex.

Deciphering the mutational signature of congenital limb malformations

Congenital limb malformations (CLMs) affect 1 in 500 live births. However, the value of exome sequencing (ES) for CLM is lacking. The purpose of this study was to decipher the mutational signature of CLM on an exome level. We enrolled a cohort of 66 unrelated probands (including 47 families) with CLM requiring surgical correction. ES was performed for all patients and available parental samples. A definite molecular diagnosis was achieved in 21 out of 66 (32%) patients. We identified 19 pathogenic or likely pathogenic single-nucleotide variants and three copy number variants, of which 11 variants were novel. We identified four variants of uncertain significance. Additionally, we identified RPL9 and UBA2 as novel candidate genes for CLM. By comparing the detailed phenotypic features, we expand the phenotypic spectrum of diastrophic dysplasia and chromosome 6q terminal deletion syndrome. We also found that the diagnostic rate was significantly higher in patients with a family history of CLM (p = 0.012) or more than one limb affected (p = 0.034). Our study expands our understanding of the mutational and phenotypic spectrum of CLM and provides novel insights into the genetic basis of these syndromes.

Scleral Perforation Secondary to Cyclophotocoagulation

A 66-year-old man with ectodermal dysplasia syndrome, right eye Type 1 Boston Keratoprosthesis (K-Pro), and chronic angle-closure glaucoma underwent cyclophotocoagulation diode in the right eye (2500 mW, 2-4 seconds), which resulted in scleral perforation with 3 Seidel positive holes along the inferotemporal limbus (Fig A). LiquiBand glue was applied and the perforations were covered with a Tutoplast scleral patch graft followed by amniotic membrane (Fig B). Two weeks later, the graft had fallen off (Fig C), and the large perforations coalesced.