Rare Congenital Anomaly Research Articles

A Case Report of Fetal Split Hand Foot Malformation Syndrome: A Rare Congenital Limb Anomaly

AbstractFetal split hand foot malformation (SHFM) syndrome is a rare congenital disorder characterized by developmental abnormalities of fingers and/or toes, resulting in a split appearance. SHFM is sporadic and shows mainly autosomal dominant inheritance with variable clinical presentation. Prenatal diagnosis plays a crucial role in the management and in counseling of affected families. In this case report, we present the diagnosis of SHFM through ultrasound imaging and genetic testing in a primigravida, along with post abortal fetal findings. The aim was to highlight the importance of early detection during routine ultrasound and genetic counseling for appropriate understanding and management of this rare limb condition.

Vascular Ring Surgical Repair: Re-Implantation of the Left Subclavian Artery into the Left Carotid Artery in a Pediatric Patient.

Vascular rings are a rare congenital anomaly of the aortic arch, in which a ring-shaped structure forms, surrounding the trachea and/or esophagus, potentially causing compression. We describe the case of a 14-month-old female patient with failure to thrive secondary to dysphagia, and a vascular ring formed by a right aortic arch, an aberrant left subclavian artery, and a left ligamentum arteriosum. Surgical repair involved ligamentum arteriosum division, Kommerell's diverticulum obliteration, and left subclavian artery re-implantation into the left carotid artery. Endoscopy and EndoFLIPTM evaluated the intraoperative improvement in esophageal narrowing and impedance, respectively. The postoperative period was uneventful, and follow-up visits demonstrated dysphagia resolution and a patent re-implanted left subclavian artery.

Biliary atresia with rare associations: a case report and literature review

Introduction and Importance: Biliary atresia is a rare, progressive cholangiopathy that affects newborns, causing jaundice and other manifestations of hyperbilirubinemia. The incidence is higher in Asia than in Europe. The only available treatment is a surgical operation called Kasai portoenterostomy. In our case, we highlighted rare congenital anomalies that came with biliary atresia. Case Presentation: A 10-day-old male infant was admitted to the hospital due to recurrent vomiting, yellowish skin, and scleral icterus. Laboratory investigations revealed elevated total serum and direct bilirubin levels. An atrophic gallbladder was observed on ultrasound. Intrahepatic cholangiography confirmed the diagnosis of biliary atresia, leading to the performance of a Kasai procedure. Additionally, the patient had intestinal malrotation and volvulus, which were managed with a Ladd’s procedure. Following surgery, there was notable improvement in liver enzymes and bilirubin levels, and the patient was discharged after 7 days. The infant has been initiated on oral vitamins, ursodeoxycholic acid, and antibiotics. Clinical Discussion: Biliary atresia is a challenging condition characterized by progressive narrowing and fibrosis of the biliary tree. It is rarely associated with rare congenital anomalies like situs inversus totalis, intestinal malrotation, and volvulus. Diagnosis involves abdominal ultrasound and MRCG. The biliary atresia was managed by the kasai procedure and the intestinal malrotation, and volvulus were managed by Ladd’s procedure. Conclusion: This case report highlights the importance of considering rare associations such as situs inversus, intestinal malrotation and volvulus in the diagnosis of biliary atresia in newborn. Early diagnosis and prompt intervention are crucial for optimal outcomes.

Lymphatic endothelial cell-specific NRAS p.Q61R mutant embryos show abnormal lymphatic vessel morphogenesis.

Generalized lymphatic anomaly (GLA) and kaposiform lymphangiomatosis (KLA) are rare congenital disorders that arise through anomalous embryogenesis of the lymphatic system. A somatic activating NRAS p.Q61R variant has been recently detected in GLA and KLA tissues, suggesting that the NRAS p.Q61R variant plays an important role in the development of these diseases. To address this role, we studied the effect of the NRAS p.Q61R variant in lymphatic endothelial cells (LECs) on the structure of the lymphatics during embryonic and postnatal lymphangiogenesis applying inducible, LEC-specific NRAS p.Q61R variant in mice. Lox-stop-Lox NrasQ61R mice were crossed with Prox1-CreERT2 mice expressing tamoxifen-inducible Cre recombinase specifically in LECs. Whole-mount immunostaining of embryonic back skin using an antibody against the LEC surface marker VEGFR3 showed considerably greater lymphatic vessel width in LEC-specific NRAS p.Q61R mutant embryos than in littermate controls. These mutant embryos also showed a significant reduction in the number of lymphatic vessel branches. Furthermore, immunofluorescence staining of whole-mount embryonic back skin using an antibody against the LEC-specific nuclear marker Prox1 showed a large increase in the number of LECs in LEC-specific NRAS p.Q61R mutants. In contrast, postnatal induction of the NRAS p.Q61R variant in LECs did not cause abnormal lymphatic vessel morphogenesis. These results suggest that the NRAS p.Q61R variant in LECs plays a role in development of lymphatic anomalies. While this model does not directly reflect the human pathology of GLA and KLA, there are overlapping features, suggesting that further study of this model may help in studying GLA and KLA mechanisms.

Coexistence of Cecal duplication cyst and Meckel’s diverticulum presenting as intestinal obstruction: A rare case report

Introduction and importance: Enteric duplication cyst (EDC) is a rare congenital anomaly with incidence of 1 in 4500 live birth. Meckel’s Diverticulum (MD) is the most common congenital anomaly of gastrointestinal (GI) tract. The coexistence of EDC and MD in same patient is extremely rare. Presentation of EDC depends on it’s location, may present with dysphagia, respiratory distress, abdominal pain, abdominal distension and intestinal obstruction. However, MD remains asymptomatic in most of the cases. Case presentation: We present a case of 11month boy, presenting with fever, vomiting, and abdominal distension for four days and decreased frequency of defecation with fowl smelling stool, not mixed with blood. All the systemic examination findings were regular except soft and generalized distension of abdomen. CECT scan of abdomen showed features suggestive of EDC versus mesenteric cyst. The patient underwent exploratory laparotomy with ileocecal resection, ileocolic anastomosis and appendectomy. Meckel’s diverticulum was discovered incidentally at distal ileum, and was left intact. The patient was discharged in stable state. Clinical discussion: EDCs can occur anywhere in the GI tract, most frequently in small intestine and least often in cecum. MD is true diverticulum of small intestine. This case report discusses a rare occurrence of a pediatric patient having both an EDC and MD, emphasizing diagnostic and management challenges in such unique cases. Conclusion: Clinicians should be aware about simultaneous occurrence of EDC and MD in pediatric population who may present as intestinal obstruction.

Generation of an induced pluripotent stem cell line (NCHi016-A) from a 5-year-old female with pulmonary atresia with intact ventricular septum and one-and-half ventricle palliation

Pulmonary atresia with intact ventricular septum (PA-IVS) is a rare congenital heart defect characterized by underdeveloped pulmonary valve and right ventricular hypoplasia. Neonates undergoing surgery to open pulmonary valve have a range of post-surgical ventricular recovery: single-ventricle (1v) palliation, one-and-half ventricle (1.5v) palliation, and bi-ventricular (2v) repair. PA-IVS-1.5v typically requires surgical intervention to install cavopulmonary shunt and entails partial right ventricle recovery. NCHi016-A is an iPSC line derived from a 5-year-old female with PA-IVS-1.5v using Sendai Virus reprogramming. This iPSC line shows typical iPSC morphology, has normal karyotype, expresses pluripotency markers, and has potential to differentiate into three germ layers.

Robotic hemi-colectomy for ascending colon cancer in a patient with situs inversus totalis

BackgroundSitus inversus totalis (SIT) is a rare congenital anomaly in which the thoracic and abdominal cavity structures are completely opposite to normal. Performing robot-assisted surgery in these patients is difficult because of these anomalies. A few reports have described robot-assisted surgery for rectal cancer in patients with SIT, but no reports to date have described robot-assisted surgery for colon cancer.Case presentationA 74-year-old female presented with abdominal pain and was diagnosed with ascending colon cancer and SIT. We carefully planned the surgical procedure and performed robot-assisted hemi-colectomy. Although we used unusual port placement, the operation was performed safely. The patient was discharged without any complications.ConclusionsRobot-assisted surgery is safe and efficient for patients with anatomical anomalies.

Cervical Chondrocutaneous Branchial Remnants: A Rare Congenital Anomaly of the Neck. A Case Series, Literature Review, and Associated Anomalies.

Cervical chondrocutaneous branchial remnants (CCBRs) are rare anomalies found in the neck. These remnants can be easily misdiagnosed due to their low incidence, and they are often associated with other anomalies. Previous studies have reported an association with other anomalies in up to 76% of cases. In this article, the authors present a case series of two patients with bilateral CCBRs and investigate the associated anomalies through a literature review. Patients diagnosed with CCBRs who presented with cervical masses were included. Records were reviewed to investigate factors such as sex, location of the CCBRs, associated anomalies, timing of operations, and cartilage pathology. A surgical excision technique was employed, and the study also included a literature review focusing on reports related to CCBRs and associated anomalies. Two patients, a 3-year-old boy and a 17-year-old adolescent girl, with bilateral CCBRs underwent surgical excision. Patient demographics, prevalence, and characteristics of associated anomalies in CCBR cases were documented in the literature review. This case series presented two successful surgical excisions of CCBRs without complications or recurrence at 1 year of follow-up. The study emphasized the importance of thorough evaluation and assessment for associated anomalies in various body systems due to the potential co-occurrence of CCBRs with other anomalies.

Anorectal Malformation Patients in Australia and Europe: Different Location, Same Problem? A Retrospective Comparative Registry-based Study

Anorectal malformations (ARM) encompass a spectrum of rare congenital defects of the rectum and anus, requiring specialized reconstructive surgery. To improve epidemiological and clinical research in rare diseases such as ARM, collaborative efforts and patient registries are key.This retrospective study pools clinical data over a 30-year period from two ARM patient registries (The Royal Children's Hospital (RCH) in Melbourne, Australia, and the ARM-Network Consortium in Europe). It aims to draw comparisons on demographics, management, and outcomes between ARM patients in Australia and Europe.A total of 2947 ARM patients were included in the analyses. The RCH cohort had more complex ARM types (including rectal atresia and recto-vaginal fistula) and more associated anomalies, specifically skeletal, cardiac, and/or trachea-esophageal, than ARM-Net patients. Other patient characteristics were similar. Treatments clearly differed between the groups. European surgeons favoured the PSARP approach for both less complex and more complex ARM types, where Australian surgeons opted more often for cutback surgery in less complex, and laparoscopic assistance in more complex types. Complications were differently distributed, with less complications after LAARP and more after PSARP at RCH, compared to ARM-Net. While RCH patients more often required a redo, ARM-Net patients more commonly underwent anal dilatations.Anorectal malformation patients in Australia and Europe had minor differences in disease characteristics, and both operative and medical approaches differed. Joint efforts such as the present study emphasize the importance of collaboration to elucidate areas of improvement where surgeons may learn from each other across the world, ultimately improving patient outcomes. Type of StudyOriginal Research. Level of EvidenceIII.

COEXISTENCE OF GOLDENHAR SYNDROME WITH JUVENILE IDIOPATHIC ARTHRITIS: A CAUSAL LINK OR MERE COINCIDENCE?

Goldenhar syndrome, a rare congenital anomaly primarily affecting the face, external ear and vertebrae, and juvenile idiopathic arthritis (JIA), a chronic inflammatory disease in children under 16, represent distinct and uncommon clinical entities. We report the case of a five-and-a-half-year-old girl, with a history of treated congenital hip dislocation, admitted for persistent joint pain for over 6 months, affecting both knees, wrists and ankles with inflammatory signs without associated visceral manifestations. Clinical examination revealed a dysmorphic facies characteristic of Goldenhar syndrome, including facial asymmetry with mandibular hypoplasia, auricular anomalies such as a bilateral pre-tracheal appendix, an acrochordon on the right cheek, a pre-auricular sinus, microtia, and a closed right external auditory canal. A lumbar scoliosis was also identified on dorsolumbar spine imaging, with a CT scan of the rock that objectified an imperforation of the right external auditory canal and lack of visualization of the tympanic membrane, consolidating the diagnosis of Goldenhar syndrome.Biologically, the patient presented with inflammatory anemia with a moderate inflammatory syndrome, as well as hypergammaglobulinemia detected by protein electrophoresis. Tests for antinuclear antibodies and rheumatoid factor were negative (15 IU/mL). X-rays of the affected joints were taken, and the diagnosis of Idiopathic Juvenile Arthritis was retained after eliminating all differential diagnoses. This unusual coexistence raises complex diagnostic and therapeutic challenges, requiring a multidisciplinary approach and ongoing surveillance for comprehensive management.

Alternative Venous Pathways: A Potential Key Imaging Feature for Early Diagnosis of Sturge-Weber Syndrome Type 1.

Sturge-Weber syndrome is a rare congenital disorder characterized by cortical atrophy and calcifications on late-stage imaging. Understanding the evolution of brain lesions is crucial for effective early interventions, yet the timeline remains unclear. We aimed to evaluate early brain MRI findings and their progression longitudinally on follow up MRI in children diagnosed with Sturge-Weber syndrome. We retrospectively included all children with a confirmed diagnosis of Sturge-Weber syndrome between 2009 and 2023 that had at least 2 available MRIs performed before the age of 2 years. A pediatric radiologist and a pediatric neuroradiologist evaluated all the MRI scans for pial enhancement, choroid plexus enlargement, atrophy, calcifications, a prominent subarachnoid varicose network, trans medullary veins, subependymal veins, and deep extra ventricular veins. Descriptive analysis was used for demographic data and brain lesion prevalence. Cumulative incidence curves were used to show the timeline of emerging lesions. K-means clustering was used to categorize the lesions based on their prevalence at 1, 2, 3, 6, 12, 18, and 24 months after birth. Nine patients met the inclusion criteria. Median ages at the first and last MRIs were 35 days (IQR: 11-123) and 294 days (IQR: 208-465), respectively. The most prevalent lesions at the first MRI were subarachnoid varicose network (88.9%) and trans medullary veins (77.8%), while prevalence of atrophy and calcifications differed most between the first and last MRIs. The results of the elbow method and K-means clustering showed that we can divide Sturge-Weber syndrome lesions into 3 groups based on their timeline of emergence. The first cluster contained subarachnoid varicose network, trans medullary veins, subependymal veins, and choroid plexus enlargement. The second cluster contained deep extra ventricular veins, pial enhancement, accelerated myelination, and atrophy. The last cluster contained calcifications. Our findings suggest that dilated venous channels emerge early as a compensatory mechanism, preceding atrophy and calcification. Additionally, these dilated channels precede the appearance of abnormal contrast enhancement of the pia, often termed leptomeningeal angioma. This underscores the importance of early recognition and monitoring of these initial imaging indicators in clinical practice. ASL = Arterial Spin Labelled; MinIP = Minimum intensity projection; SWS = Sturge-Weber Syndrome.

Treacher Collins syndrome: current and emerging treatment options

Treacher Collins syndrome is a rare congenital disorder characterized by bilateral craniofacial malformations, including mandibular and zygomatic hypoplasia, cleft palate, and eye anomalies, resulting in significant variability in symptom severity. The syndrome, with an incidence of approximately 1 in 50,000 births, is primarily caused by mutations in the TCOF1 gene and less frequently by mutations in POLR1C and POLR1D genes, disrupting ribosome biogenesis crucial for craniofacial development. Clinical manifestations encompass diverse craniofacial, auditory, and skeletal abnormalities, often leading to airway complications and hearing loss. Management involves a multidisciplinary approach, combining surgical interventions such as mandibular distraction osteogenesis and orthognathic surgeries with advanced imaging techniques for precise planning. Hearing loss is managed with bone conduction aids and cochlear implants, although outcomes may vary due to associated anomalies. Genetic testing aids in diagnosis and family planning decisions, while emerging therapies like genome editing and regenerative medicine show promise for future treatments. Despite challenges in long-term management and relapse rates in surgical corrections, ongoing research aims to enhance therapeutic efficacy and patient outcomes, emphasizing the need for tailored treatment strategies addressing both functional and aesthetic aspects.

Fetal Lower Urinary Tract Obstruction: Current Diagnostic and Therapeutic Strategies and Future Directions.

Fetal lower urinary tract obstruction (LUTO) is a rare congenital anomaly in which the bladder cannot empty properly. The clinical presentation is variable. On the severe end of the spectrum, the amniotic fluid index can be sufficiently low, resulting in fetal lung development that is incompatible with life outside the womb. The pressure in the urinary tract system can also result in severe damage to the kidney, resulting in renal failure in utero or in the first couple years of life. Therefore, much work has been done to determine which fetuses need intervention in utero to allow for survival outside of the womb and avoidance of end-stage renal disease. Multiple therapies have been developed to relieve the obstruction in utero with the mainstay being vesicoamniotic shunting and posterior urethral valve ablation. While much has been investigated to determine which fetuses would benefit from fetal intervention, the current indications are not without their flaws. This review describes the current indications and their shortcomings, as well as new experimental methods of determining need for intervention. Additionally, this review describes the milestone animal studies that established the challenges of current fetal interventions and the utility of an experimental valved shunt in sheep over the last 20 years. Our understanding of LUTO and which fetuses benefit from in utero intervention has grown over the last 20 years. However, traditional markers have proven to be less predictive than previously thought, opening the door to exciting new advances. Vesicoamniotic shunting, while lifesaving, does not preserve bladder function and frequently dislodges. Animal studies over the last 20 years have established the utility of a valved shunt to maintain bladder function. Current advances are working to create such a shunt that can be percutaneously deployed and have greater adherence to the bladder wall to avoid dislodgement.

Phenotypic spectrum in Weiss-Kruszka syndrome caused by ZNF462 variants: Three new patients and literature review

Weiss-Kruszka Syndrome (WSKA) is caused by pathogenic variants in ZNF462 representing a rare autosomal dominant congenital anomaly syndrome. It is characterized by global developmental delay, hypotonia, feeding difficulties, and craniofacial abnormalities, documented in fewer than 30 patients. ZNF462, located on chromosome 9p31.2, is a transcription factor and has an important role during embryonic development and chromatin remodelling. Here, we report three new patients with WSKA, Through whole exome sequencing (WES) analysis, we identified two novel variants in three patients, two of whom are siblings. These variants (c.3078dup, p.Val1027Cysfs5 and c.4792A > T p.Lys1598*) in the ZNF462 gene are likely resulting in haploinsufficiency. Our patients help to further delineate the phenotype, genotype and potential therapeutic management strategies for WSKA. Since we report a second WSKA patient with an autoimmune disease further clinical and functional studies are needed to elucidate the association between this chromatin remodelling disorder and the development of autoimmune problems. In the future, collaborative efforts are encouraged to develop an episignature for WSKA, given the gene's function and associated patient phenotypes. This new technology has the potential to provide valuable insights into the disorder.

The Role of Preoperative Imaging for Midline Congenital Upper Lip Sinus Tracts.

To describe 3 cases of midline congenital upper lip sinus (MCULS) and review current literature to inform risk of intracranial involvement in the context of this rare congenital facial anomaly. A limited case series with chart review is presented. A literature search was conducted to review proposed theories of the embryology of MCULS and to determine the relative frequency of cephalic extension. Including the 3 new cases presented herein, there have been 42 cases of MCULS described in the literature over the past 53 years. Thirty-nine cases (93%) underwent surgical excision, with 2 of these cases (4.7%) demonstrating cephalic extension of the fistula tract beyond the maxillary crest with termination at the anterior skull base. However, 95% (37/39) of surgically excised MCULS cases demonstrated a more limited depth of extension, with termination of the tract at or below the anterior nasal spine. The MCULS anomaly is rare, with fewer than 50 cases reported in the literature. Only 2 cases have been described with extension of the MCULS superior to the anterior nasal spine and into the nasal septum. It is the authors' opinion that preoperative neuroimaging is not routinely required for MCULS. However, if extension of the sinus tract beyond the anterior nasal spine is noted intraoperatively, the surgeon should consider aborting the case and obtaining appropriate neuroimaging.

Pediatric Quadricuspid Aortic Valve: Morphology, Characteristics, Clinical Outcomes, and Literature Review.

Quadricuspid aortic valve (QAV) is an exceedingly rare congenital heart defect (CHD) which has not been well-defined in a pediatric population. The Mayo Clinic echocardiography database was retrospectively analyzed to identify patients ≤18 years diagnosed with QAV from January 1990 to December 2023. Patients with truncus arteriosus were excluded. All images were independently reviewed to define morphology of the QAV by using the Hurwitz and Roberts classification. Fourteen patients with QAV were identified with a median age at time of diagnosis being 10.5 years (interquartile range [IQR] 6-14 years). Male-to-female ratio was 3:1. Associated CHDs were present in 50% (n = 7) patients. The most common morphological subtypes of QAV were Type D in 43% (n = 6) and Type B in 29% (n = 4). Aortic regurgitation was the most frequently associated valvular abnormality affecting 86% (n = 12) cases, with greater than moderate regurgitation in only two patients. Aortic valve stenosis was observed in 14% (n = 2) patients. Ascending aortic dilatation was present in 21% (3/14) of the cohort, but only 14% (1/7) of isolated QAV patients. At a mean follow up of 11 ± 6.6 years and a median follow-up age of 22 years (IQR 14-27 years), survival was 100% with no primary interventions on the aortic valve or aorta. However, four patients required surgical interventions for associated CHDs. Among children with QAV, almost half of the patients had additional CHD. Aortic regurgitation was the predominant hemodynamic abnormality. Long-term survival was excellent with minimal progression during childhood and adolescence.

Exploring the Impact of Genetics in a Large Cohort of Moebius Patients by Trio Whole Exome Sequencing.

Moebius syndrome (MBS) is a rare congenital disorder characterized by non-progressive facial palsy and ocular abduction paralysis. Most cases are sporadic, but also rare familial cases with autosomal dominant transmission and incomplete penetrance/variable expressivity have been described. The genetic etiology of MBS is still unclear: de novo pathogenic variants in REV3L and PLXND1 are reported in only a minority of cases, suggesting the involvement of additional causative genes. With the aim to uncover the molecular causative defect and identify a potential genetic basis of this condition, we performed trio-WES on a cohort of 37 MBS and MBS-like patients. No de novo variants emerged in REV3L and PLXND1. We then proceeded with a cohort analysis to identify possible common causative genes among all patients and a trio-based analysis using an in silico panel of candidate genes. However, identified variants emerging from both approaches were considered unlikely to be causative of MBS, mainly due to the lack of clinical overlap. In conclusion, despite this large cohort, WES failed to identify mutations possibly associated with MBS, further supporting the heterogeneity of this syndrome, and suggesting the need for integrated omics approaches to identify the molecular causes underlying MBS development.

Diagnosis and management of prune belly syndrome in pediatric patients

Prune-Belly Syndrome has been defined as a rare urological congenital anomaly. Worldwide, a prevalence of 1 per 50,000 live births was described. Among the characteristics that identify this syndrome are the deficiency of the abdominal wall musculature, dilation of the urinary tract and bilateral cryptorchidism. Management requires great interdisciplinary knowledge and even urological surgery. The objective of this work was to identify the main methods of diagnosis and management of Prune Belly Syndrome in pediatric patients through a bibliographic review. The bibliographic review was carried out with articles published from 2017 to 2023 in high-impact journals, 25 articles were found, 8 had case reports and 17 were a theoretical source of information. In short, the key diagnosis is established by means of a prenatal ultrasound, with respect to management it can be conservative or surgical and multidisciplinary management with specialists is important.

Laparoscopic retrocaval ureteroplasty in a child with combined urodynamic disorders

Retrocaval location of the ureter in combination with aberrant renal vessels is a rare and complex urinary system malformation that requires careful verification. Currently, the most appropriate method for diagnosing retrocaval ureter is contrast-enhanced computed tomography. With the development of hydronephrosis or ureterohydronephrosis, the patient underwent laparoscopic ureteroplasty. Surgical treatment of retrocaval ureter involves resection of the altered ureter or pelvic–ureter segment with the formation of uretero-ureteral anastomosis or ureteropieloanastomosis anterior to the inferior vena cava. This article presents a successful laparoscopic ureteroplasty in a child with complex urodynamics of the urinary tract. Considering the presence of two levels of ureteral vascular crossing in the clinical example, pyelo-ureteral segment was performed to relocate the ureter in front of the inferior vena cava and aberrant inferior polar vessels. The patient was discharged in satisfactory condition to the outpatient stage of treatment, with subsequent hospitalization in the urological department. Retrocaval location of the ureter in combination with aberrant renal vessels is a rare congenital anomaly that requires prompt examination in a specialized clinic and an individual examination and treatment plan.

Extensive isolated bilateral Ankyloblepharon Filiforme Adnatum: a case report

We report a case of a rare congenital eyelid abnormality, ankyloblepharon filiforme adnatum, in an otherwise healthy male neonate, bom to healthy parents out of non-consanguineous marriage. This newborn presented with extensive band of tissue connecting upper and lower eyelid of both eyes, resulting in extremely limited palpebral aperture opening. Antenatal history was unremarkable. The parents came to us at the age of one month. The baby was operated on that day at admission under local anesthesia. The eyelid band of both eyes were excised at the level of each lid margin resulting in normal eye opening. Dilated fundoscopic examination was done along wit,h anterior segment examination. No underlying ocular abnormalities were noted. A detail systemic examination by pediatrician failed to reveal any other congenital anomaly. Echocardiography and cerebral echography (both normal) were performed to exclude congenital heart disease and cerebral malformations. The baby was then discharged without complications. Ankyloblepharon filiforme adnatum may be isolated or may present with other congenital anomalies. Therefore, the presence of eyelid bands should alert for complete systemic examination. Prompt treatment is required for proper opening of the eye and to decrease the risk of amblyopia. CME J 2024; 3(2); 47-49