Cochlear implantation in patients with complex craniofacial anomalies such as Pierre Robin syndrome poses significant surgical challenges, particularly in the presence of external aural atresia and middle ear agenesis. The authors present the case of a female patient diagnosed with Pierre Robin syndrome at 7 weeks of age, who exhibited glossoptosis, cleft palate, micrognathia, and multiple systemic anomalies. Audiological evaluation confirmed profound bilateral sensorineural hearing loss, and imaging revealed severe malformations of the external, middle, and inner ear. Sequential bilateral cochlear implantation was planned. At 20 months of age, left-sided cochlear implantation was successfully performed using anatomic estimation despite the absence of conventional landmarks. A second attempt for right-sided implantation was made at 26 months; however, the surgery was aborted due to the inability to localize the cochlea. At 4 years of age, right-sided implantation was successfully achieved using a navigation-guided transmastoid approach. High-resolution preoperative imaging with fiducial markers enabled accurate intraoperative localization, allowing for safe electrode insertion despite the complex anatomy. Postoperative follow-up demonstrated favorable auditory and language development. This case highlights the value of advanced surgical planning and navigation-assisted techniques in overcoming anatomic challenges in cochlear implantation for patients with severe congenital ear anomalies.

Background: Dental Anomaly Pattern (DAP) is a collection of morphologic, numeric, and eruptive anomalies of teeth that are often observed together, suggesting a potential genetic relationship. Our objective was to assess the potential associations of Molar-Incisor Hypomineralization (MIH), a common developmental defect of enamel mineralization with a controversial etiology, with two specific components of DAP: (1) agenesis (AG) and (2) infraoccluded deciduous molars (IODM). Establishing such an association between MIH and one or both anomalies would provide evidence supporting a genetic link between MIH and DAP. Methods: We examined pretreatment intraoral standardized photographies and panoramic radiographs from 574 children aged 8–14 years, 287 having MIH and 287 without MIH, comparing the frequencies of AG and IODM in both groups. The subject samples were sourced from the databases of the orthodontic department at a university hospital. Results: The frequencies of AG in the MIH and non-MIH groups were 7% and 8%, respectively (p = 0.751). The corresponding frequencies of IODM were 27% and 19.2%, respectively (p = 0.082). That is, children with MIH did not exhibit an increased frequency of AG or IODM compared to those without MIH. Conclusions: These findings do not support the inclusion of MIH in DAP. Nevertheless, further analysis of possible associations is necessary to definitively validate or invalidate this hypothesis.

How to Suspect and Manage an Hypoplasic Gallbladder: A Case Report and Review of Literature

Introduction: Bilateral renal agenesis was historically labeled “lethal” as pulmonary hypoplasia from chronic anhydramnios results in life-limiting respiratory failure at birth. Recently, the first case of long-term survival for an infant with bilateral renal agenesis to kidney transplant following serial prenatal amnioinfusion was reported. Subsequently, clinical trials have proposed prenatal amnioinfusions to allow for fetal pulmonary maturation, thus increasing the likelihood of survival at birth allowing for peritoneal dialysis as a bridge to kidney transplant. We report the role of palliative care across the continuum of multidisciplinary, complex care …

Objective Our aim was to search for the risk factors of cases with poor controlled congenital hypothyroidism (CH) in correspondence to their clinical aspect. Background CH is largely caused by thyroid gland dysgenesis, and there is lack of a standardized approach for diagnosis, follow-up, education, and genetic counseling of patients with CH. Patients and methods Genetic counseling and thyroid ultrasonography (US) were done. Blood samples were collected from 56 children (30 girls and 26 boys) with CH, diagnosed on the basis of neonatal screening program done by Egyptian Ministry of Health and Population, Central Health Laboratories, Hormones and Tumour Marker Department. All patients confirmed biochemically with low free thyroxine and high thyroid-stimulating hormone levels were enrolled as cases (group I), along with 56 apparently healthy individuals as controls (group II), who attended the Genetic laboratory of Genetic and Endocrinology Unit, Paediatric Department, Faculty of Medicine, Menoufia University, Egypt. Results A total of 16 (28.6%) patients had poor response to treatment. They were on a high dose of L-thyroxin (100 μg/day or more), with their US findings ranging from normal thyroid sonar in six patients, hypoplastic gland in four patients, and thyroid agenesis in six patients. All healthy control children showed normal US findings. Conclusion US is the first-choice imaging method in revealing the etiology of CH. Family counseling is a key component for enhancing the care of patients with CH.

Objective To explore the prevalence and clinical characteristics of congenital anomalies of kidney and urinary tract (CAKUT) with cryptorchidism in children. Methods A total of 21 children of CAKUT with cryptorchidism were recruited from January 2017 to August 2018.Their complete clinical and imaging data were collected and clinical symptoms and imaging abnormalities were summarized. Results The total number of genitourinary abnormalities was 26.The major CAKUT diseases included hydronephrosis, renal hypoplasia and duplex collecting system.No association existed between CAKUT and parity or paternal age.However, the incidence of CAKUT was correlated with type of cryptorchidism.Children with unilateral testicular agenesis and intraperitoneal testis were more susceptible to concurrent CAKUT than other types of cryptorchidism. Conclusions Urinary tract ultrasonography is routinely recommended for children with cryptorchidism.The incidence of CAKUT is higher in children with unilateral testicular agenesis and intraperitoneal testis.Clinical alert should be raised and necessary imaging examinations conducted.It is necessary to diagnose this disorder early, avoid a misdiagnosis and made treatment properly. Key words: Cryptorchidism; Congenital anomalies of the kidney and urinary tract; Incidence

Maxillo-nasal dysplasia (Binder’s syndrome) is a rare congenital anomaly characterized by the hypoplasia of the central part of the face, particularly the area including the nose (abnormally short, flattened nose), and the underdevelopment of the upper jaw (maxillonasal region). The nasal septum is abnormally short, and the nostrils have a semilunar, comma, or a triangular shape. Other abnormalities include the abnormal position of the nasal bones, atrophy of the nasal mucosa, agenesis of the frontal sinuses. Binder’s syndrome is most commonly associated with severe hearing loss and severe intellectual retardation. We report the case of a 24-year-old pregnant woman who was antenatally diagnosed via the morphological ultrasound in the second trimester (at 22 weeks) of amenorrhea, with a fetus with Binder’s syndrome. The two-dimensional ultrasound revealed at the level of the fetus face a short, flattened nose and hypoplasia of the upper jaw. 3D ultrasound supported the same findings (Figure 1). The diagnostic amniocentesis infirmed any co-existent chromosomal abnormalities. Upon the therapeutic termination of pregnancy performed because of the association between this anomaly and severe intellectual retardation, Binder’s syndrome was confirmed (Figure 2). The anamnesis revealed that the patient had not taken long-term anticoagulant drugs (warfarin). The patient's family history was also a non-contributing factor.

Thyroid hemiagenesis is a rare congenital anomaly, more commonly affecting the left lobe of the thyroid. There is only one case reported in Saudi Arabia in Annals Saudi journals 1997, and this will be the second case to be reported in Saudi. Here, we present a 67-year-old woman with the left thyroid lobe agenesis and multinodular goiter in the right thyroid lobe. The condition was discovered during preoperative preparation for tracheostomy, which showed euthyroid (in laboratory measurements) and an enlarged right large thyroid lobe extending up to cervical vertebra 2 and the retrosternal area (in computed tomography images). The patient underwent total thyroidectomy and tracheostomy. Postoperative thyroid scan and histopathology results confirmed the diagnosis. It is a rare anomaly, with most patients asymptomatic. Consequently, cases may not be readily diagnosed.

Introduction Congenital and acquired renal diseases, which can produce renal insufficiency during the neonatal period, may be classified according to their ultrasonographic (US) characteristics: increased parenchymal echogenicity (renal parenchymal diseases, angiotensin-converting enzyme inhibitor fetopathy, and cortical necrosis), cystic disease (glomerulocystic kidney disease, autosomal recessive polycystic renal disease, multicystic dysplastic kidney, and cystic renal dysplasia), obstructive uropathies (ureteropelvic junction obstruction and posterior urethral valves), infections (candidal infections), and renal agenesis. The high-resolution sector and linear-array transducers allow the characterization of the underlying pathologic conditions in many cases. Findings of the renal parenchymal disease will vary on Doppler US, and during the acute phase, diastolic flow can be decreased, absent, or reversed. In patients with glomerulocystic kidney disease, US shows bilaterally enlarged kidneys with diffusely increased echogenicity and retention of a reniform contour, loss of corticomedullary differentiation, and cortical cysts. Obstruction of the ureteropelvic junction, the most common cause of hydronephrosis in neonates, can be seen on US as a dilated renal pelvis with dilated and communicating calices, lack of dilatation in the distal portion of the ureter, changes of renal dysplasia with increased echogenicity of the renal parenchyma, and parenchymal cysts, depending on the severity and duration of the obstruction. The high-resolution US provides an improved characterization of the renal parenchyma and a more precise description of renal architecture. The aim of this work was to evaluate the benefit of routinely performing an abdominal ultrasound on newborns to detect possible renal abnormalities, which may be missed antenatally. Patients and methods This was a longitudinal study of 200 consecutive apparently normal neonates at Damietta University Hospital. The authors performed an abdominal ultrasound on newborns to detect possible renal abnormalities. Results In this study, the incidence of renal abnormality was found in 23 (11.5%) neonates; most abnormalities were found in males (78.3%). Moreover, the majority of abnormalities were seen in a young age group less than 20 days. In this study, regarding the ultrasound abnormality findings, three (13%) neonates had left hydronephrosis G II, with left pelviureteric junction obstruction, two (8.7%) neonates had bilateral hydronephrosis with right pelviureteric junction obstruction, two (8.7%) neonates had left multicystic dysplastic kidney and left mild nephropathy, two (8.7%) neonates had an ectopic kidney, two (8.7%) neonates had an enlarged kidney, two (8.7%) neonates had right mild multicystic dysplastic kidney and left mild hydronephrosis, and two (8.7%) neonates had right mild hydronephrosis and dilated right ureter, with right vesicoureteric reflex. There was a statistically significant difference between positive cases of ultrasound abnormality and the sex of the newborn. There was a significant statistical relation between positive cases of ultrasound abnormality and the age of the newborn. Conclusion This study has been able to demonstrate an 11.5% incidence of various types of urinary anomalies in this sample.

extrahepatic biliary tree anomalies were an extremely rare anatomic anomaly, congenital absence of the gallbladder is commonest. Most of the cases are usually discovered intraoperative, because pre-operative diagnosis may be a challenges as patients can present with symptoms mimicking biliary colic. ultrasonographic diagnosis in majority of cases may be misleading. We report a first case of agenesis of the gallbladder and absences of extrahepatic biliary system.

Functional outcome of anorectal malformations has been recognized as a significant prognostic factor of affecting patient's quality-of-life. Some children are complicated with lower urinary tract dysfunction (LUTD). The causes of LUTD include spinal dysraphism, sacral agenesis, iatrogenic injuries, congenital dysplasia of pelvic floor and postoperative bowel dysfunction. Identifying the underlying causes of LUTD is the prerequisite of early diagnosis and treatment. However, lacking standardized preoperative screening examinations, postoperative follow-ups and quantitative urodynamic evaluations of lower urinary tract function leads to controversial managements. An earlier standardization of diagnosis and treatment may delay further aggravation of lower urinary tract function. Key words: Urodynamics; Congenital ano-rectal malformation; Lower urinary tract dysfunction

Objective To investigate the diagnosis, clinical outcomes and factors influencing the prognosis of fetal periventricular pseudocysts (PVPC). Methods A retrospective analysis was performed on the results of fetal neurosonography (NSG), cranial magnetic resonance imaging (MRI), chromosome karyotype and neonatal cranial ultrasound of 76 PVPC cases detected by prenatal ultrasound in Peking University First Hospital from May 2014 to October 2018. The accuracy of NSG and cranial MRI in PVPC diagnosis was assessed. Prognosis of PVPC and the influencing factors were evaluated. Statistical analysis was performed using Chi-square test or Fisher's exact test. Results (1) This study involved 51 cases (67.1%) of isolated PVPC and 25 cases (32.9%) of non-isolated PVPC. Among the 25 non-isolated PVPC cases, 15 were complicated by one abnormality and 10 by multiple abnormalities. There were 20 cases with intracranial abnormalities, two with extracranial abnormalities, and three with both intracranial and extracranial abnormalities. (2) Eight out of the 76 pregnancies (10.5%) were terminated and among them, two were isolated PVPC cases, five complicated by determined abnormalities (one case of PVPC complicated with pachygyria and bilateral mild fetal ventriculomegaly, one case of PVPC complicated with pachygyria or agyria and agenesis of corpus callosum, one case of PVPC complicated with arachnoid cyst and vermis dysplasia, one case of PVPC complicated with cortical dysplasia, one case of PVPC complicated with intestinal dilatation) and one by abnormalities of undertermined prognosis (PVPC combined with mild fetal ventriculomegaly and polyhydramnios). A total of 61 neonates (80.3%, 61/76) were born alive and followed up. Seven cases (9.2%, 7/76) were lost to follow-up. (3) As of February 2019, among the 61 followed-up infants, 44 with isolated PVPC and 15 with unclear abnormalities developed well. The other two with determined intracranial abnormalities were diagnosed as having cystic lesions in the brain parenchyma. One of them died of respiratory failure two days after birth and the other suffered from chromosomal disease (13.23 Mb deletion in region q24.3q31.2 of chromosome 2) with mental retardation and delayed growth and development. (4) A total of 44 (57.9%, 44/76) neonates received cranial ultrasound after birth and confirmed the diagnosis of PVPC, among which 11 (25.0%, 11/44) were missed or misdiagnosed in prenatal MRI. Conclusions PVPC may have many comorbidities, particularly intracranial abnormalities, which are closely related to the prognosis. A thorough prenatal ultrasound examination is necessary for fetal PVPC, especially NSG. Isolated PVPC usually has a good outcome. However, PVPC complicated by cystic lesions in the brain parenchyma may be associated with chromosomal abnormalities, hence fetal chromosome examination is required. Key words: Lateral ventricles; Central nervous system cysts; Ultrasonography, prenatal; Prognosis

Heterotopic gastric mucosa in upper esophagus (HGMUE) is a rare clinical condition, which is often associated with congenital agenesis. The diagnosis of HGMUE mainly depends on endoscopic and pathological examinations. The detection rate is increasing with the development of endoscopic techniques, however, there is no consensus on the duration of follow-up and therapeutic strategies for HGMUE and its clinical implication need to be further studied. Key words: Esophagus; Heterotopic gastric mucosa; Endoscopy

Objective As a rare congenital malformation of the female reproductive urinary system, Herlyn-Werner-wunderlich (HWW) syndrome is composed of uterus didelphys, double cervix, double vagina, oblique vaginal septum and ipsilateral anomaly of urinary system (e.g. renal agenesis). Its clinical symptoms generally appear after an onset of menarche in adolescence. Vaginal septal resection is the only effective treatment. It can relieve patient symptoms and improve the prognosis. With the popularization of ultrasound and magnetic resonance imaging (MRI), the diagnosis of HWW syndrome is rising in children. The aim of our study was to explore the clinical characteristics of HWW syndrome in children . Methods Retrospective analysis was performed for the clinical data of 5 hospitalized children with HWW syndrome from January 1, 2015 to March 31, 2018. The average age was 7.39 (1.74-12) years. All cases were diagnosed as HWW syndrome by ultrasound, MRI and surgery. Results The median follow-up period was 14 (1-36) months. Clinical types were I (n=1) and Ⅱ (n=4). The predominant clinical symptom was vaginal purulent secretion. The procedures were cystoscopic vaginal septal resection (n=3), cystoscopic vaginal septal resection (n=1) and vaginal dilatation & septal resection (n=1). One case had postoperative urinary dripping while another case of recurrent vaginal purulent secretion was relieved after vaginal irrigation. Other symptoms improved significantly. Conclusions HWW syndrome is rare in children. The predominant symptom is intermittent vaginal purulent secretion or urinary leakage. Ultrasound may be employed as a first choice for examination and MRI aids a definite diagnosis. During the treatment of vaginal septum, hymen should be properly protected. Postoperative vaginal flushing is essential. Early diagnosis and treatment of vaginal septal syndrome can not only alleviate symptoms, but also reduce complications. Key words: Child; Diagnosis; Gynatresia; Herlyn-Werner-Wunderlich Syndrome

A agenesia dentária pode ser definida como a falta de desenvolvimento do dente, com a ausência de um até seis dentes, sendo bastante frequente nas dentições decídua e permanente. A etiologia está relacionada tanto à fatores genéticos quanto a ambientais. Quanto maior a contribuição genética na origem de uma alteração, menor a possibilidade de prevenir, assim, pior o prognóstico do tratamento. Com o diagnóstico precoce, consegue-se uma intervenção ortodôntica em uma época adequada. Objetivo: Avaliar a prevalência de agenesia de incisivos laterais superiores (ILS) em radiografias panorâmicas da Faculdade de Odontologia do Centro Universitário da Serra Gaúcha. Métodos: estudo transversal de prevalência realizado no laboratório de Interpretação Radiográfica da FO-FSG envolvendo radiografias panorâmicas realizadas nos anos de 2015 a 2017. Foram registrados dados relativos ao número do prontuário do paciente, idade, sexo do indivíduo, a presença ou não de agenesia, o dente ausente, a presença ou não de diminuição de tamanho e apresentação de anomalia conoíde. Resultados: Nas amostras aplicou-se o teste Qui-quadrado para a heterogeneidade. Verificou-se que o gênero e a agenesia não estão significativamente associados (p<0,05). Conclusão: Os indivíduos com agenesia de ILS, não apresentam diferenças entre os lados e os gêneros. Constata-se que a agenesia bilateral do ILS, é mais frequente do que a agenesia unilateral.

The most common congenital and developmental anomaly in teeth is the missing of one or more of them. Congenitally missing teeth (CMT) or teeth agenesis mentions failure of tooth formation due to disturbances during the early stages of tooth germ development. There are several definitive treatment options for these patients including fixed, removable or implant-supported prostheses. Economic limitations and age of treatment prevent us from choosing the most desirable treatment. This clinical report describes a noninvasive approach for full mouth reconstruction of a child with multiple missing teeth besides posterior open bite occlusion.

Objective To study the expression of nuclear factor-kappaB (NF-κB) and the counts of lymph vessels in laryngeal squarnous cell carcinoma and polyps of vocal cord tissues, and explore their clinicopathologic significance and correlation in the course of laryngeal carcinoma. Methods SP immuno-histochemical method was used to detect the expression of NF-κB and the counts of lymph vessels on the routinely paraffln-embedded sections of the specimens from 50 cases laryngeal squamous cell carcinoma and 10 cases of polyps of vocal cord tissues. Results The positive rate of NF-κB and the counts of lymph ves-sels in laryngeal carcinoma[60. 0% ,( 13.3±3.4)/HP]were significantly higher ( P <0. 05 and P <0. 01respectively) than those in polyps of vocal cord tissues[10.0 % ,(6. 1±3. 8)/HP]. The positive rate of NF-κB and the counts of lymph vessels in well differentiated adenocarcinoma and cases without metastasis were significantly lower( P < 0. 05, P <0. 01 ), compared with poor-differentiated adenoearcinoma and ca-ses with metastasis. The counts of lymph vessels in the NF-κB positive cases were significantly higher than thoseinNF-κBnegativecases[(14.9±4.1)/HPvs (9.8±3.1)/ HP, P <0.01] . Conclusions The expression of NF-κB and the counts of lymph vessels might be important markers to be used to monitor the progression, biological behaviors, metastatic status and prognosis of laryngeal carcinoma. NF-κB might pro-mote lympoangiogenesis in laryngeal squnmous cell carcinoma tissues. Key words: Laryngeal neoplasms/ME/PA; Carcinoma, squamous cell/ME; NF-kappa B/ME; Lymphangiogenesis

Oligodontia is the agenesis of six or more permanent teeth, excluding the third molars. Multidisciplinary dental treatments should be performed sequentially due to the restoration requirements for good oral function, aesthetics and self-confidence of patients. In this study, we report a case using dental implants and full-ceramic prostheses to restore the absent and malformed teeth in a patient with agenesis of 18 permanent teeth and with some primary teeth retained. The dental sequential treatments began when she was 16 years old, and she wore removable partial dentures for 4 years with unsatisfying restoration outcome. When she became an adult, dental implants and full-ceramic prostheses were used to restore the absent and malformed teeth. Finally, the patient was very satisfied with the functional and aesthetic outcomes of the prosthetic treatment.

The case of a 39-year-old woman with vertical strabismus with no concordance between intraoperative findings and the preoperative magnetic resonance imaging (MRI) has been presented here. Orbital MRI revealed apparent agenesis of the inferior rectus muscles. After undergoing surgery a satisfactory postoperative result with reduction of lateral incomitance has been observed.

Vici syndrome is a rare autosomal recessive inherited disease, which includes multisystem disorder of the body. Vici syndrome is characterized by agenesis of the corpus callosum, cardiomyopathy, combined immunodeficiency, cataracts and oculocutaneous hypopigmentation; profound developmental-delay, acquired microcephaly, cleft lip/palate and seizures are also involvement. The ophthalmological features of Vici syndrome include bilateral nuclear and anterior polar cataracts, nystagmus, bilateral optic nerve atrophy, and moderate fundus hypopigmentation. The condition is due to recessive mutations in the EPG5 autophagy gene on chromosome 18q. (Int Rev Ophthalmol, 2018, 42: 409-413) Key words: Vici syndrome; cataract; autophagy