The Predictors of Seizures in Patients with Encephalocele: An 11-Year Experience from a Tertiary Hospital.

INTRODUCTION: The aim of the study was to investigate and identify the predictors associated with the incidence of seizures in patients with encephalocele (EC). METHODS: A retrospective analysis was undertaken of patients treated for EC at a tertiary medical center in Tehran between 2010 and 2021. Data including age at presentation, gender, location, size, and content of EC, ventriculomegaly, hydrocephalus, associated anomalies, and neurodevelopmental delay (NDD) were evaluated for their prognostic value. In addition, univariate and multivariate analyses were performed to identify the correlation between independent predictors and seizure incidence. RESULTS: One hundred and two cases of EC were identified. Seventy-one ECs (69.6%) were posterior ECs, while 31 (30.4%) were anterior. Neural tissue was found in 43 (42.2%) of the ECs. Thirty-three patients (32.4%) had ventriculomegaly, of which 90.9% underwent shunt placement for progressive or symptomatic hydrocephalus. Seizure was found in 26 (25.5%) patients. On univariate analysis, presence of other anomalies, postoperative infections, and NDD were associated with seizures (p < 0.05). When the anomalies were categorized into intracranial and extracranial groups in univariate analysis, none was associated with statistically significant increase in seizure (p values of 0.09 and 0.61, respectively). Although according to multivariate analysis, only the association between other associated anomalies and seizure was near significant (OR: 2.0, 95% CI: 0.95-4.2, p = 0.049). Children with NDD and postoperative infection were, respectively, 3.04 and 1.3 times more at risk to experience seizures compared to other patients. CONCLUSION: We found a rate of 25.5% risk of seizure in patients with EC. This study could not find any significant predictors of seizure in children with EC. However, pediatric patients with postoperative infections including sepsis, wound infection, and NDD require more consideration to reduce the risk of seizure.

Associated anomalies in Pierre Robin sequence.

Pierre Robin sequence (PRS) is frequently co-occurring with other non-PRS congenital anomalies. The types and the prevalence of anomalies co-occurring with PRS vary in the reported studies. The aims of this report was to study the types and the prevalence of the anomalies co-occurring with PRS in a well-studied population northeastern France. The types and the prevalence of anomalies co-occurring in cases with PRS were ascertained in all terminations of pregnancy, stillbirths and live births in 387,067 births occurring consecutively during the period 1979-2007 in the area covered by our registry of congenital anomalies which is population-based, 89 cases of PRS were registered during the study period with a prevalence of 2.29 per 10,000 births, 69.7% of the cases had associated non-PRS anomalies. Chromosomal abnormalities were present in 10 (11.2%) cases including three 22 q11.2 deletion. Non-chromosomal recognizable conditions were diagnosed in 27 cases (30.3%) including 10 Stickler syndrome, 8 Treacher Collins syndrome, 3 cases with short stature and 6 other syndromes. Multiple congenital anomalies (MCA) were present in 25 cases (28.1%). The most frequent MCA were in the ear, face and neck (35 out of 98 anomalies, 35.7%), cardiovascular (18 anomalies, 18.4%), musculoskeletal (11 anomalies, 11.2%), central nervous (7 anomalies, 7.1%), urinary (6 anomalies, 6.1%), and eye (6 anomalies, 6.1%) system. The high prevalence of associated anomalies justifies a thorough screening for other congenital anomalies in cases with PRS.

Experience in prenatal ultrasound diagnosis of fetal microtia and associated abnormalities.

Objective: Prenatal ultrasound features, associated anomalies and genetic abnormalities of microtia cases were analyzed to explore the feasibility and value of prenatal ultrasound for the diagnosis of microtia. Methods: The ultrasonographic features, associated anomalies, chromosome examination results and follow-up results of 81 fetuses with congenital microtia were analyzed retrospectively. Results: Among the 81 fetuses with microtia diagnosed after birth, 2 cases were missed diagnosis on prenatal ultrasound, and 1 case was diagnosed as unilateral microtia by prenatal ultrasound but was found to be bilateral microtia after birth. Microtia was accompanied by an accessory auricle in 4 cases (4.94%) and low-set ears in 7 cases (8.64%). 22 cases (27.16%) were complicated with other structural anomalies, including 11 cases (13.58%) of cardiac anomalies, 7 cases (8.64%) of ultrasonographic soft marker anomalies, 6 cases (7.41%) of facial anomalies, 6 cases (7.41%) of nervous system anomalies, 3 cases (3.70%) of urogenital system anomalies, 3 cases (3.70%) of digestive tract anomalies and 2 cases (2.47%) of limb anomalies. Chromosome karyotype analysis and gene detection were performed in 44 cases. Trisomy 18, trisomy 13, trisomy 21, pericentric inversion of chromosome 9, partial loss of heterozygosity on chromosome 14, 22q11 microdeletion and a normal karyotype were found in 2 cases, 2 cases, 3 cases, 1 case, 1 case, 1 case, and 34 cases, respectively. Conclusion: In summary, microtia is often accompanied by congenital defects of other organs and structures, especially the heart and face, and prenatal ultrasound diagnosis of microtia and associated anomalies is of important clinical significance.

Gastrointestinal Duplications: A Decade's Experience.

Context: Gastrointestinal (GI) duplications are rare congenital malformations with diverse presentations. They usually present in the pediatric age, especially in the first 2 years of life. Aims: To present our experience with GI duplication (cysts) at a pediatric surgery tertiary care teaching institute. Settings and Design: It is a retrospective observational study undertaken in the department of pediatric surgery at our center between 2012 and 2022 for GI duplications. Materials and Methods: All children were analyzed for their age, sex, presentation, radiological evaluation, operative management, and outcomes. Results: Thirty-two patients were diagnosed with GI duplication. Slight male predominance was present in the series (M: F ≈ 4:3). Fifteen (46.88%) patients presented in the neonatal age group; 26 (81.25%) patients were under 2 years. In the majority of cases (n = 23, 71.88%), the presentation was acute onset. Double duplication cysts on opposite sides of the diaphragm were present in one case. The most common location was ileum (n = 17), followed by gallbladder (n = 6), appendix (n = 3), gastric (n = 1), jejunum (n = 1), esophagus (n = 1), ileocecal junction (n = 1), duodenum (n = 1), sigmoid (n = 1), and anal canal (n = 1). Multiple associations (malformations/surgical pathologies) were present. Intussusception (n = 6) was the most common, followed by intestinal atresia (n = 5), anorectal malformation (n = 3), abdominal wall defect (n = 3), hemorrhagic cyst (n = 1), Meckel's diverticulum (n = 1), and sacrococcygeal teratoma (n = 1). Four cases were associated with intestinal volvulus, three cases with intestinal adhesions, and two with intestinal perforation. Favorable outcomes were present in 75% of cases. Conclusion: GI duplications have varied presentations depending on site, size, type, local mass effect, mucosal pattern, and associated complications. The importance of clinical suspicion and radiology cannot be underrated. Early diagnosis is required to prevent postoperative complications. Management is individualized as per the type of duplication anomaly and its relation with the involved GI tract.

Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia.

Developmental abnormalities provide a unique opportunity to seek for the molecular mechanisms underlying human organogenesis. Esophageal development remains incompletely understood and elucidating causes for esophageal atresia (EA) in humans would contribute to achieve a better comprehension. Prenatal detection, syndromic classification, molecular diagnosis, and prognostic factors in EA are challenging. Some syndromes have been described to frequently include EA, such as CHARGE, EFTUD2-mandibulofacial dysostosis, Feingold syndrome, trisomy 18, and Fanconi anemia. However, no molecular diagnosis is made in most cases, including frequent associations, such as Vertebral-Anal-Cardiac-Tracheo-Esophageal-Renal-Limb defects (VACTERL). This study evaluates the clinical and genetic test results of 139 neonates and 9 fetuses followed-up at the Necker-Enfants Malades Hospital over a 10-years period. Overall, 52 cases were isolated EA (35%), and 96 were associated with other anomalies (65%). The latter group is divided into three subgroups: EA with a known genomic cause (9/148, 6%); EA with Vertebral-Anal-Cardiac-Tracheo-Esophageal-Renal-Limb defects (VACTERL) or VACTERL/Oculo-Auriculo-Vertebral Dysplasia (VACTERL/OAV) (22/148, 14%); EA with associated malformations including congenital heart defects, duodenal atresia, and diaphragmatic hernia without known associations or syndromes yet described (65/148, 44%). Altogether, the molecular diagnostic rate remains very low and may underlie frequent non-Mendelian genetic models.

Concealed Penile Duplication - Presenting Late.

We report a case of concealed penile duplication without many symptoms and normally looking external genitalia in a 10-year-old boy. He was evaluated with appropriate imaging and had successful surgical reconstruction of his genitalia with good cosmesis and functional outcome.

The Incidence of Associated Anomalies in Children with Congenital Duodenal Obstruction-A Retrospective Cohort Study of 112 Patients.

BACKGROUND: Duodenal obstruction (DO) is a congenital anomaly that is highly associated with other anomalies, such as cardiac anomalies and trisomy 21. However, an overview of additional anomalies and patient-specific risk factors for cardiac anomalies is lacking. Potential association with the vertebral, anorectal, cardiac, trachea-esophageal, renal and limb anomalies (VACTERL) spectrum remains unknown. Therefore, we aim to examine the incidence of associated anomalies, a VACTERL-spectrum association and patient-specific risk factors for cardiac anomalies in patients with DO. METHODS: A retrospective cohort study was performed between 1996 and 2021. Outcomes were the presence of any additional anomalies. Risk factors for cardiac anomalies were analyzed using multivariate logistic regression. RESULTS: Of 112 neonates with DO, 47% (N = 53/112) had one associated anomaly and 38% (N = 20/53) had multiple anomalies. Cardiac anomalies (N = 35/112) and trisomy 21 (N = 35/112) were present in 31%. In four patients, VACTERL-spectrum was discovered, all with cardiac anomalies. Trisomy 21 was found to be a risk factor for cardiac anomalies (OR:6.5; CI-95%2.6-16.1). CONCLUSION: Associated anomalies were present in half of patients with DO, of which cardiac anomalies and trisomy 21 occurred most often, and the VACTERL-spectrum was present in four patients. Trisomy 21 was a significant risk factor for cardiac anomalies. Therefore, we recommend a preoperative echocardiogram in patients with DO. In case a cardiac anomaly is found without trisomy 21, VACTERL-screening should be performed.

Comparison and impact of associated anomalies on the anal position index in neonates with anorectal malformation.

OBJECTIVE: Some prognostic factors have affected the functional outcomes of patients with anorectal malformations (ARM) after definitive surgery, including the associated anomalies. Moreover, the anal position index (API) study in neonates from developing countries is minimal. We aimed to (1) compare the API between neonates with ARM and controls; and (2) determine the impact of associated anomalies on the API in neonates with ARM. RESULTS: We ascertained 68 subjects: 35 neonates with ARM and 33 controls. The API of neonates with ARM was similar to controls, either male or female neonates (p = 0.51 and 0.90, respectively). Interestingly, the API in ARM males with associated anomalies (0.42 ± 0.07) was significantly lower than in control males (0.48 ± 0.02) (p = 0.005). Moreover, the API of ARM neonates with vertebral anomalies (0.35 ± 0.04) was lower than ARM neonates without vertebral anomalies (0.47 ± 0.07) (p = 0.021). In conclusion, associated anomalies and sex might affect the API in neonates with ARM. These findings should be considered and informed during counseling to the parents regarding the prognosis of functional outcomes in ARM neonates, particularly with associated anomalies.

Co-occurring anomalies in congenital oral clefts.

Oral clefts (OCs) are frequently co-occurring with other non-OC congenital anomalies. The types and the prevalence of anomalies co-occurring with OCs vary in the reported studies. The aims of this report were to study the types and the prevalence of the anomalies co-occurring with OCs in a well-defined population. The types and the prevalence of anomalies co-occurring in cases with OCs were ascertained in all terminations of pregnancy, stillbirths, and live births in 387,067 births occurring consecutively during the period 1979-2007 in the area covered by our registry of congenital anomalies which is population based, 789 cases of OCs were registered during the study period with a prevalence of 20.4 per 10,000 births, 39.5% of the cases had associated non-OC anomalies. Associated anomalies were more common in cases with cleft palate (52.4%) than in cases with cleft lip and palate (37.3%) and in cases with cleft lip only (16.8%). Chromosomal abnormalities were present in 94 (11.9%) cases including 27 trisomies 13, 15 trisomies 18, 12 22 q11.2 deletion, and 40 other chromosomal abnormalities. Nonchromosomal recognizable conditions were diagnosed in 38 cases (4.8%) including syndromes, associations, spectrums and sequences. Multiple congenital anomalies (MCAs) were present in 180 cases (22.8%). The most frequent MCA were in the musculoskeletal system (16.7%), the central nervous system (15.0%), the urogenital system (13.7%), the cardiovascular system (8.6%), and the digestive system (6.6%). The high prevalence of associated anomalies justifies a thorough screening for other congenital anomalies in cases with OCs.

A rare case of a neonate with agenesis of the corpus callosum and severe laryngomalacia.

BACKGROUND: Agenesis of the corpus callosum (ACC) is a rare congenital anomaly often associated with other congenital anomalies, syndromic, chromosomal, or genetic disorders. ACC may be detected antenatally. The postnatal diagnosis usually arises following neuroimaging evaluation for neurodevelopmental disorders during the first years of life. CASE DESCRIPTION: We report a case of a neonate with complete ACC, presenting with serious feeding-swallowing difficulties and respiratory symptoms. Coexisting severe laryngomalacia was diagnosed. ACC was detected on routine cranial ultrasound. Molecular karyotype revealed pericentric inversion of chromosome 9, inv(9)(p23q22.3), and whole exome sequencing was negative. CONCLUSION: The reported case presented unusual clinical manifestations. Laryngomalacia is an extremely rare associated anomaly in infants with ACC, with only a few cases reported in the literature. Moreover, to our knowledge, this is the first reported case of ACC and laryngomalacia associated with the polymorphism inv(9)(p23q22.3). HIPPOKRATIA 2022, 26 (3):118-120.

Congenital Chylothorax of the Newborn: A Systematic Analysis of Published Cases between 1990 and 2018.

BACKGROUND: Congenital chylothorax (CCT) of the newborn is a rare entity but the most common cause of pleural effusion in this age-group. We aimed to find the optimal treatment strategy. MATERIAL AND METHODS: A PubMed search was performed according to the PRISMA criteria. All cases were analyzed according to prenatal, perinatal, and postnatal treatment modalities and follow-ups. RESULTS: We identified 753 cases from 157 studies published between 1990 and 2018. The all-cause mortality rate was 28%. Prematurity was present in 71%, male gender dominated 57%, mean gestational age was 34 weeks, and birth weight was 2,654 g. Seventy-nine percent of newborns had bilateral CCT, the most common associated congenital anomalies with CCT were pulmonary lymphangiectasia and pulmonary hypoplasia, and the most common chromosomal aberrations were Down, Noonan, and Turner syndromes, respectively. Mechanical ventilation was reported in 381 cases for mean 17 (range 1-120) days; pleural punctuations and drainages were performed in 32% and 64%, respectively. Forty-four percent received total parenteral nutrition (TPN) for mean 21 days, 46% medium-chain triglyceride (MCT) diet for mean 37 days, 20% octreotide, and 3% somatostatin; chemical pleurodesis was performed in 116 cases, and surgery was reported in 48 cases with a success rate of 69%. In 462 cases (68%), complete restitution was reported; in 34 of 44 cases (77%), intrauterine intervention was carried out. CONCLUSION: Respiratory support, pleural drainages, TPN, and MCT diet as octreotide remain to be the cornerstones of CCT management. Pleurodesis with OK-432 done prenatally and povidone-iodine postnatally might be discussed for use in life-threatening CCT.

Management of Interrupted Aortic Arch With Associated Anomalies: A Single-Center Experience.

OBJECTIVES: Interrupted aortic arch (IAA) includes a broad spectrum of associated anomalies. In this study, we present our surgical management and patient-specific decisions regarding IAA anomalies with early- and mid-term outcomes. METHODS: The medical records of 25 patients undergoing IAA repair between 2014 and 2019 were retrospectively reviewed. Sixteen patients had type B (64%) interruptions, 7 had type A (28%) interruptions, and 2 had type C (8%) interruptions. Fourteen patients had an isolated ventricular septal defect, and 3 of them had associated left ventricular outflow tract obstruction. Other associated anomalies were functional single ventricle (n = 5), Taussig-Bing anomaly (n = 3), aortopulmonary window (n = 1), multiple ventricular septal defects (n = 1), and truncus arteriosus with dextrocardia (n = 1). The initial operation age was 17.2 ± 14 (range: 1 - 60) days. RESULTS: Single-stage total repair was performed for 15 patients. Six patients underwent aortic arch repair and pulmonary artery banding. Four patients with left ventricular outflow tract obstruction or who were premature underwent the hybrid procedure. The aortic arch repair was performed in 16 cases (64%) by the anterior patch augmentation technique, in 3 cases (12%) by the reverse left subclavian artery flap technique, and in 3 cases (12%) by direct end-to-end anastomosis. Postoperative early mortality occurred in 4 (16%) patients, and sternal closure was delayed in 13 (52%) patients. Three patients who underwent a hybrid procedure due to left ventricular outflow tract obstruction underwent biventricular repair 8 to 13 months later. Eight patients (38%) required reintervention due to arch restenosis during the follow-up period. The mean follow-up was 37.1 ± 21.7 months. CONCLUSION: Planning surgical treatment according to the characteristics of the patients and accompanying anomalies may improve the results.

Omphalocele: national current birth prevalence and survival.

PURPOSE: The increase in prenatal diagnosis together with the high rates of associated anomalies in omphalocele has led to increased rates of termination of pregnancies. The aim of this study was to examine the national Swedish birth prevalence and survival rates among these patients. METHODS: This study is based on a nationwide population-based cohort of all children born in Sweden between 1/1/1997 and 31/12/2016. All omphalocele cases were identified though the Swedish National Patient Register and the Swedish Medical Birth Register. Outcome of malformations and deaths were retrieved from the Swedish Birth Defects Register and the Swedish Causes of Death Register. RESULTS: The study included 207 cases of omphalocele (42% females). The birth prevalence for omphalocele was 1/10,000 live births. About 62% of the cases had associated malformations and/or genetic disorders; most common was ventricular septal defect. The mortality within the first year was 13%. The rate of termination of pregnancy was 59%. CONCLUSION: The national birth prevalence for omphalocele in Sweden is 1/10,000 newborn, with high termination rates. Over half of the pregnancies with prenatally diagnosed omphalocele will be terminated. Among those who continue the pregnancy, 1-year survival rates are high. TYPE OF STUDY: National register study LEVEL OF EVIDENCE: III.

Cross-sectional analysis of associated anomalies and vertebral anomaly location in 1289 surgical congenital scoliosis.

PURPOSE: This study systematically analyzed and assessed the interrelationships among vertebral anomaly location, congenital scoliosis (CS) type and associated abnormality prevalence. METHODS: We retrospectively extracted medical records of 1289 CS inpatients surgically treated in our institute from January 2010-December 2019. All patients underwent spinal X-ray, CT, MRI, echocardiogram, urogenital ultrasound and systemic physical examination. We analyzed information on demographics, CS type, associated anomalies and vertebral anomaly location. RESULTS: Cervical, thoracic and lumbar vertebral anomalies were found in 5.7%, 78.1% and 33.6% of patients, respectively. 82.7% had one region involved. 59.5% with cervical malformations had mixed defects and 61.1% with lumbar malformations exhibited failure of formation. The musculoskeletal defect prevalence was 28.4%, 19.1% and 9.0% in patients with cervical, thoracic and lumbar anomalies. The intraspinal defect prevalence was 33.4% and 20.7% for thoracic and lumbar anomalies. 86.5% of patients with cervical anomalies had more than one region involved, while 78.1% and 62.2% with thoracic and lumbar anomalies, respectively, had only one region involved. CONCLUSIONS: Cervical malformations had higher prevalence of mixed defects, musculoskeletal and intraspinal defects and multi-region involved. Thoracic malformations had higher prevalence of intraspinal and musculoskeletal defects and more involvement of only one vertebral region. Lumbar vertebral malformation patients had much lower prevalence of intraspinal and musculoskeletal defects and more involvement of only one vertebral region. Cervical malformation was a risk factor for more associated anomalies and more severe vertebral anomalies, which deserves more attention from surgeons in outpatient clinic.

Cross-sectional analysis and trend of vertebral and associated anomalies in Chinese congenital scoliosis population: a retrospective study of one thousand, two hundred and eighty nine surgical cases from 2010 to 2019.

PURPOSE: The objective of this article is to report associated anomaly incidences of a large CS cohort and analyze interrelationships among vertebral anomaly types and associated abnormalities. METHODS: We retrospectively searched and extracted medical records of 1289 CS inpatients surgically treated in our institute from January 2010 to December 2019. All patients have taken spine X-ray, CT, MRI, echocardiogram, urogenital ultrasound, and systemic physical examination. We analyzed information on demographics, CS types, and associated anomalies. RESULTS: CS type was found to be 49.1% for failure of formation (FF), 19.5% for failure of segmentation (FS), and 31.4% for mixed defects (MD). Intraspinal defects were found in 29.4% patients (16.0% for FF, 45.4% for FS, 40.5% for MD), cardiac in 13.7% (12.3% for FF, 14.3% for FS, 15.6% for MD), genitourinary in 5.8% (4.1% for FF, 6.0% for FS, 8.4% for MD), gastrointestinal in 3.6% (4.7% for FF, 1.6% for FS, 3.0% for MD), and musculoskeletal in 16.4% (10.3% for FF, 19.9% for FS, 23.7% for MD). The intraspinal and musculoskeletal defect incidences were significantly higher in patients with failure of segmentation and mixed defects. We also observed a decreasing trend for intraspinal and musculoskeletal defect incidences as well as a tendency for more failure of formation and less failure of segmentation from 2010 to 2019. CONCLUSIONS: The intraspinal and musculoskeletal defect incidences were higher in patients with failure of segmentation and mixed defects. Strong interrelationships were found between intraspinal and musculoskeletal defects and among cardiovascular, genitourinary, and gastrointestinal defects. From 2010 to 2019, the proportion of patients with failure of formation increased significantly, causing a decrease in the intraspinal and musculoskeletal defect incidences over time. Female sex, failure of segmentation, and mixed defects could be considered risk factors for more associated anomalies in CS individuals, which would help surgeons in medical management and prenatal consultation.

The Outcome of Operated Neonates with an Isolated Congenital Diaphragmatic Hernia in a Limited Resource Scenario: A Critical Analysis.

INTRODUCTION: Congenital diaphragmatic hernia (CDH) is one of the most common neonatal emergencies, and the ideal current therapy requires high standards of neonatal care and advanced facilities. However, majority of neonates born with CDH are treated in public sector hospitals, with limitations in resources and workforce. OBJECTIVES: The aim of the study was to review and analyze the outcome of operated neonates with isolated CDH in a public sector hospital and medical college where a standard protocol of management was followed, considering the need for optimization of therapy in view of the resource constraints. MATERIALS AND METHODS: A retrospective chart review and analysis of the antenatal, preoperative, operative, and postoperative records of all neonates with operated CDH during the 3-year period from June 2015 to June 2018 at the hospital was done. The standard institutional protocol being followed included preoperative stabilization, risk stratification for patient selection, early decision regarding operative intervention, and continued postoperative ventilation. RESULTS: During the 3-year period, 78 children were admitted with CDH, of which 40 newborns with operated CDH were studied. The mean age at surgery was 72 h. Thirty-five of these 40 cases (87.5%) made an uneventful recovery, while mortality was 5/40 (12.5%). All mortalities (5/40) occurred during the postoperative period after 3 days due to respiratory failure while being ventilated. CONCLUSION: The strategy of a uniform protocol in the management of CDH adapted to the practical constraints of the institution yielded good results in the low-to-moderate risk group of neonatal CDH. The approach also facilitated the segregation of high-risk cases and optimal utilization of available facilities in a limited resources scenario.

Experience with the management of anorectal malformations in Ibadan, Nigeria.

INTRODUCTION: anorectal malformation is a multi-systemic birth defect of the distal gastrointestinal tract, the management of which is challenging to the surgeons, the patients and the parents. The presence of associated congenital malformations may worsen the outcome with consequent psychosocial effects on the patients and the parents. The characteristics of anorectal malformations with the challenges associated with their management and the outcomes are therefore presented here. METHODS: all patients managed for anorectal malformations from January 2003 to December 2017 were studied. Patients´ demography, clinical presentations, types of malformations, associated anomalies, procedures performed, post-operative complications and management outcome were obtained and analysed. RESULTS: eighty-eight children with anorectal malformations comprising 61 (69.3%) boys and 27 (30.7%) girls were studied with 76 (86.3%) patients presenting within the first year of life. Low anorectal malformation was observed in 14 (15.9%) patients, 71 (80.7%) patients had intermediate or high malformations and cloacal malformation was present in 3 (3.4%) patients. Associated congenital malformations were observed in 18 (20.5%) patients with 10 (55.6%) patients associated with intermediate or high malformations and urogenital system was the most common system whose anomalies were associated with anorectal malformations in 12 (13.6%) patients. Anoplasty was performed on 14 (15.9%) patients, posterior sagittal anorectoplasty was performed on 67 (76.1%) patients, abdominosacroperineal pull through on 4 (4.6%) patients and posterior sagittal anorectovaginourethroplasty on 3 (3.4%) patients. Six (6.8%) neonates died. CONCLUSION: immediate post-operative outcome was good; however, good functional outcome can only be assessed in an atmosphere of good follow-up which is still a problem in our environment.

Common cloaca: An uncommon entity posing diagnostic and management challenges: Our experience with nine cases.

BACKGROUND: Cloacal anomalies are the severest and most complex of all anorectal malformations (ARMs). They require careful evaluation and meticulous surgery tailored to suit each variant. We present our experience in a series of nine cases. METHODS: This includes a retrospective review of 9 cases of cloaca managed at a tertiary care centre between 2015 and 2019. RESULTS: Associated anomalies were seen in 44% cases. The definitive surgery was performed at a mean age of 15.2 months (10 months-19 months), the definitive surgery being rectal separation with total urogenital mobilisation. The common channel as measured during panendoscopy was up to 3 cm in 7 patients (78%), and only 2 patients had a common channel of more than 3 cm (22%). Of the 34 procedures that these nine patients underwent, there were four complications (12%). The median follow-up period after stoma closure was 18 months (5-32 months), and the mean age at last follow-up was 38 months (22-48 months). Five children (63%) had spontaneous voiding and remained dry in the intervening period. Three patients (37%) had poor urinary stream with dribbling and high postvoid residue requiring clean intermittent catheterisation. Six patients had faecal soiling (66%); four had daily soiling; and two had occasional soiling. Four patients had constipation (44%). Seven patients (77%) required daily enemas for bowel evacuation and to remain dry. CONCLUSION: Cloacal anomalies are rare and complex ARMs. Satisfactory urinary and bowel continence rates can be achieved even in these complex anomalies.

Clinical characterization of 266 patients and family members with cleft lip and/or palate with associated malformations and syndromes.

OBJECTIVES: To clinically characterize patients and family members with cleft lip and/or palate (CL/P) and associated congenital malformations or syndromes and propose possible inheritance patterns. MATERIALS AND METHODS: An observational study of patients with CL/P, including medical and family history and intra- and extra-oral examination of their family members, was performed. RESULTS: Two hundred sixty-six patients, 1257 family members, and 42 pedigrees were included in the study. The distribution of patients according to the cleft type was 57.9% with CLP, 25.2% with cleft palate (CPO), and 12.8% with cleft lip with/without alveolus (CL/A). Seventy-four (27.8%) patients had associated malformations, and 24 (9.2%) a syndrome. The skeletal (27.7%), cardiovascular (19.3%) systems, and eyes (22.9%) were most commonly affected. Pierre Robin Sequence (7 patients) and van der Woude (4) were the most common syndromes. The majority of patients with CPO (19/24) had an associate syndrome. The families had an average of 2.45 affected members. CONCLUSION: Individual and interfamilial phenotypic variability in patients with CL/P makes the understanding of etiopathogenesis challenging. CLINICAL RELEVANCE: The overall prevalence of individuals with CL/P and their pedigrees with associated malformations and syndromes emphasize the need for early identification, interdisciplinary, and long-term planning.

[Clinical Characteristics and Genetic Analysis of Klippel-Feil Syndrome].

Objective To summarize clinical characteristics and investigate possible pathogenic gene of Klippel-Feil syndrome(KFS)by the self-designed multigene panel sequencing,so as to decipher the molecular basis for early diagnosis and targeted therapy.Methods From January 2015 to December 2018,we consecutively recruited 25 patients who were diagnosed with KFS in Peking Union Medical College Hospital.The demographic information,clinical manifestations,physical examination and radiological assessments were analyzed.Multigene panel sequencing was performed after DNA extraction from peripheral blood.The possible pathogenic mutations of KFS were explored on the basis of bioinformatics analysis.Results The KFS cohort consisted of 25 patients,including 15 males and 10 females,with a mean age of(12.9±7.3)years.Limited cervical range of motion was the most common clinical feature(12 cases,48%).Based on the Samartzis classification,the proportion of patients suffered from short neck(P=0.031)and limited cervical range of motion(P=0.026)in type Ⅲ KFS was significantly higher than that in type Ⅱ and type Ⅰ KFS.Panel sequencing detected a total of 11 pathogenic missense mutations in eight patients,including COL6A1,COL6A2,CDAN1,GLI3,FLNB,CHRNG,MYH3,POR,and TNXB.There was no pathogenic mutation found in five reported pathogenic genes(GDF6,MEOX1,GDF3,MYO18B and RIPPLY2)associated with KFS.Conclusions Our study has shown that patients with multiple contiguous cervical fusions are more likely to manifest short neck,limited cervical range of motion,and clinical triad.Therefore,these patients need additional attention and follow-up.Our analysis highlights novel KFS-related genetic variants,such as COL6A and CDAN1,extending the spectrum of known mutations contributing to this syndrome and providing a basis for elucidating the pathogenesis of KFS.