Cloacal Dysgenesis Sequence in a Preterm Neonate.

BACKGROUND Cloaca malformations result from a disproportion of apoptosis, cell growth, and maturation. The range of cloacal malformations is extensive and diverse, with a lack of a straightforward classification system. Cloacal dysgenesis sequence (CDS), also known as urorectal septum malformation sequence, is a rare cloaca variant described as the absence of a perineal orifice. Prenatal magnetic resonance imaging and antenatal ultrasounds may reveal a cloacal malformation; however, many patients are not diagnosed with cloacal malformation until birth. CASE REPORT We present a case of a female neonate delivered by a 23-year-old G2P1T1A0L0 mother who had received comprehensive prenatal care. During pregnancy, bilateral multicystic dysplastic kidneys were identified prenatally, leading to the in utero placement of a vesicoamniotic shunt. The physical exam revealed a distended abdomen with reduced abdominal musculature and laxity, ascites, a vesicoamniotic shunt in place, absent urethra, ambiguous genitalia with no vaginal opening, no perineal opening, and clubfoot. Abdominal radiograph showed findings consistent with significant abdominal ascites. An exploratory laparotomy was performed that included diverting colostomy, mucous fistula creation, tube vaginostomy, removal of the vesicoamniotic shunt, and suprapubic tube placement. The patient recovered well from this operation with no complications. CONCLUSIONS CDS is an uncommon condition in pediatric patients, and although sonographic findings can reveal urinary tract abnormalities, prenatal imaging might not always identify CDS. Our case underscores the uniqueness of the case and the significance of early detection and immediate medical and surgical intervention.

Prenatal Diagnosis of Primrose Syndrome.

Primrose syndrome is a very rare congenital malformation. Symptoms of this disorder may appear during childhood, but the diagnosis is identified in adulthood in the majority of cases. The prenatal diagnosis of Primrose syndrome is not developed in the literature. We present herein a case series of 3 cases with characteristic sonographic features. A dysmorphic metopic suture, downslanting palpebral fissures, a wide forehead, and agenesis of corpus callosum are the main signs. A missense mutation in ZBTB20 identified in whole exome sequencing can confirm the prenatal diagnosis of Primrose syndrome.

Characteristics of Neuroimaging and Behavioural Phenotype in Polish Patients with PIGV-CDG-An Observational Study and Literature Review.

Congenital disorders of glycosylation (CDGs) are a wide group of genetic diseases characterised by a severe clinical spectrum, consisting of developmental delays, dysmorphisms, and neurological deficits. Mutations in the PIGV gene lead to a disorder called hyperphosphatasia with impaired intellectual development syndrome 1 (HPMRS1), distinct from other CDGs in terms of hyperphosphatemia related to abnormal ALP activity and brachytelephalangy. This article discusses the phenotype of six Polish patients with HPMRS1 with a special focus on behavioural and imaging features, which were not addressed in 26 previously reported cases. The medical records of six patients aged 6 to 22 years were collected and analysed. In all cases, the same PIGV homozygotic mutation (c.1022C>A; p.Ala341Glu) was found, although the patients presented a diverse spectrum of neurological and developmental disorders, concerning in most cases the muscular tonus and general developmental delay. The most prevalent dysmorphic features included hypertelorism, high palate, and finger anomalies, whereas other characteristics present in all previously described cases, such as a short, broad nose and brachytelephalangy, were less frequently observed. Similarly to previous reports, the magnetic resonance (MR) and computed tomography (CT) head scans returned varied results, including physiological and pathological brain images in equal measure, the latter of which consisted of cortical atrophy, delayed myelination, hydrocephalus, and hypoplastic corpus callosum. Each patient exhibited symptoms characteristic of autism spectrum disorders, especially in terms of attention deficits, as well as controlling and expressing emotions. The most common type of sensory processing disorder was over-responsivity. Despite the low prevalence of HPMRS1, the patients reported in the literature presented a rather uniform phenotype, which does not correspond with the one found in each individual of the studied group. Behavioural disorders and sensory impairment require additional care and awareness considering the global developmental delay often observed in these patients.

Atypical caudal regression syndrome with lumbar agenesis, hypoplastic sacrum without sacroiliac joints in the eastern Democratic Republic of Congo: a case report.

The agenesis of any segment of the lower spinal column referred to as "caudal regression syndrome" (CRS) is a rare congenital defect of the spine. This malformation is characterized by the absence of some or the entire lumbosacral vertebral segment. Etiological factors remain unknown. We report an atypical caudal regression syndrome with lumbar agenesis, disconnected from the remaining hypoplastic sacrum, in the Eastern part of the Democratic Republic of Congo (DRC).An 11-month-old female infant with no particular fetal or maternal history presented limb weakness with flexed knees and flanges in the popliteal fossae, sphincter atony, and a sensation of emptiness on palpation in the lumbosacral region. A 3D CT scan of the spine showed the absence of the lumbar spine and disconnection of the upper segment of the thoracic spine from the hypoplastic sacrum. We noted also the absence of the sacroiliac joints bilaterally and an unusual trigonal shape of the iliac bones. MRI and sonographic examination are required in the investigation of the disease. The management is multidisciplinary and depends upon the degree of the defect. Spine reconstruction has proven to be a valuable management technique but has many complications. We wanted to draw the medical world's attention to the existence of this extremely rare malformation in the east of the Democratic Republic of Congo, a mining area.

X-linked pyruvate dehydrogenase complex deficiency due to a novel PDHA1 variant associated with structural brain abnormalities in a fetus.

We report a case of pyruvate dehydrogenase E1 alpha subunit deficiency associated with a novel hemizygous PDHA1 variant presenting prenatally as multiple structural brain abnormalities in a male fetus. A healthy Finnish couple was initially referred to the Fetomaternal Medical Center because of suspected fetal choroid plexus cyst at 11 + 2 weeks of pregnancy. At 20 + 0 weeks, multiple abnormalities were observed with ultrasound including narrow thorax, slightly enlarged heart, hypoplastic cerebellum, absent cerebellar vermis and ventriculomegaly. Autopsy and genetic analyses were performed after the termination of pregnancy. The findings of macroscopic examination included cleft palate, abnormally overlapping position of fingers and toes and dysmorphic facial features. Neuropathological examination confirmed the absence of corpus callosum, cerebellar hypoplasia and ventriculomegaly. Nodular neuronal heterotopia was also observed. Trio exome sequencing revealed a novel hemizygous de novo variant c.1144C>T p.(Gln382*) in the PDHA1 gene, classified as likely pathogenic. We suggest that inherited metabolic disorders should be kept in mind as differential diagnoses in fetuses with structural brain abnormalities.

Prenatal Diagnosis of Fetal Obstructed Hemivagina and Ipsilateral Renal Agenesis (OHVIRA) Syndrome.

Background: Obstructed hemivagina and ipsilateral renal agenesis (OHVIRA) syndrome, also known as Herlyn-Werner-Wunderlich syndrome, is a rare syndrome characterized by the triad of uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis. Most cases of OHVIRA have been reported in adolescents or adults. Gartner duct cysts, including those manifesting as vaginal wall cysts, are also rare. Fetal OHVIRA syndrome and Gartner duct cysts are difficult to diagnose. Case Presentation: Here, the authors report a case of combined OHVIRA and Gartner duct cyst diagnosed prenatally by ultrasonography, along with a brief review of the relevant published reports. A 30-year-old nulliparous female was referred to our institution at 32 weeks' gestation for fetal right kidney agenesis. Detailed ultrasonographic examinations using 2D, 3D, and Doppler ultrasounds revealed hydrocolpometra, and uterus didelphys, with a normal anus and right kidney agenesis. Conclusions: When encountering female fetuses with ipsilateral renal agenesis or vaginal cysts, clinicians should be aware of OHVIRA syndrome and Gartner duct cysts and perform systematic ultrasonographic examinations for other genitourinary anomalies.

A fetus of partial urorectal septum malformation sequence characterized by complete septate uterus: A case report.

RATIONALE: Urorectal septum malformation sequence (URSMS) is an extremely uncommon anomaly characterized by imperforate anus accompanied by multiple genitourinary malformations. Here, we report a case of URSMS identified by the autopsy and classified into partial URSMS. Prenatal diagnosis is challenging for clinicians due to the difficulty of early identification of URSMS and the relative lack of specific features in ultrasound. We intend to share our experiences. PATIENT CONCERNS: One fetus was indicated abdominal cystic structure, abdominal effusion and right renal pelvis separation (7 mm) by ultrasound at 28 + 1 week's gestation. After the pregnancy was terminated, the fetal tissues were performed to be tested by autopsy, copy number variation sequencing and whole exon sequencing. DIAGNOSES: Based on the clinical characteristics, ultrasound, autopsy, and genetic test findings, the fetus was diagnosed with URSMS. INTERVENTIONS: After genetic counseling, the couple opted to terminate her pregnancy. OUTCOMES: The copy number variation results of the fetus showed a 0.48-MB duplication fragment of uncertain significance on chromosome 8p23.3, while the whole-exome sequencing revealed a SAL-LIKE 1 gene mutation. The autopsy of the fetus showed imperforate anusa, the abdominal cyst was further confirmed with complete septate uterus and the lower urethra and vagina converge formed a lumen. LESSONS: Individuals with URSMS during the fetal period might be misdiagnosed due to atypical features of URSMS. Once structural abnormalities especially cystic mass of the futuses in the lower abdomen, URSMS should be considered.

Vaginoscopic Management of OHVIRA (Obstructive Hemivagina and Ipsilateral Renal Agenesis).

OBJECTIVE: To describe the vaginoscopic management of longitudinal vaginal septum in the case of obstructive hemivagina and ipsilateral renal agenesis (OHVIRA) syndrome. DESIGN: Surgical video describing step-by-step management. SETTING: OHVIRA syndrome also known as Herlyn-Werner-Wunderlich syndrome is a triad of obstructed hemivagina, uterus didelphys, and ipsilateral renal anomaly [1] (Supplimentary Video 1). Patients usually present after menarche with progressive dysmenorrhea, lower abdominal pain, a paravaginal mass, foul mucopurulent discharge, and intermenstrual bleeding due to hemi hematocolpos [2]. Magnetic resonance imaging is the choice of investigation [3]. Surgical resection of the septum is the choice of treatment, which can be done vaginoscopically to reduce postoperative pain and promote enhanced recovery [4]. In this video, we will demonstrate a case of a 28-years old, nulliparous woman diagnosed with uterine didelphys having lower abdominal pain and persistent vaginal discharge. INTERVENTIONS: The video demonstrates the technique of vaginoscopic excision of the right hemi-vaginal septum that resulted in complete visualization of both cervices. Diagnostic laparoscopy confirmed uterine didelphys. The left cervix was visualized and the hysteroscope was negotiated into the cervical canal (Supplimentary Video 2). The left cavity was normal with left ostia. Intraoperative transrectal-ultrasound was done to localize the cystic collection in the right hemivagina. Needle aspiration of cystic collection was done over the bulging portion of the right hemivagina and mucoid material was aspirated. Longitudinal obstructive vaginal septum was incised using a collins knife and mucoid secretions were drained (Supplimentary Video 3). Hysteroscope inserted into opened right hemivagina, negotiated through the right cervix and right hemiuterus with right ostia was visualized. The residual septum was resected with a loop electrode and hemostasis was ensured. Cystoscopy done, left ureteric orifice with urine reflux visualized. Vaginal examination showed both cervices with near normal reconstructed vagina. CONCLUSION: The possibility of OHVIRA syndrome should be considered in all cases of uterine didelphys. Vaginoscopic management is a safe and effective method with a minimally invasive approach.

Two Siblings Showing a Mild Phenotype of Joubert Syndrome with a Specific CEP290 Variant.

Joubert syndrome (JS) is a genetic neurodevelopmental disorder characterized by lower brainstem dysplasia and cerebellar vermis agenesis termed molar tooth sign (MTS), psychomotor retardation, abnormal respiratory pattern in infancy, and oculomotor abnormalities. Arima syndrome (AS), which is a severe form of JS, is characterized by severe psychomotor retardation, congenital visual impairment, progressive renal dysfunction, and lower brainstem dysplasia from early infancy. Numerous patients with AS expire in early childhood. Recently, c.6012-12T> A in the CEP290 gene was reported as a specific variant of AS. Herein, we report the cases of two siblings showing a phenotype of JS with compound heterozygous mutations (c.6012-12T > A / c.5924delT) in the CEP290 gene. The older sister (aged 19 years) had hypotonia, hypertelorism, and anteverted nares since birth. As a neonate, she developed a transient abnormal respiratory pattern and nystagmus, and brain magnetic resonance imaging (MRI) showed MTS. The younger sister (aged 13 years) exhibited mild hypotonia and pendular nystagmus as a neonate; MRI revealed MTS. Both sisters had psychomotor retardation, oculomotor dysfunction, and bilateral renal cysts with normal renal function. They can walk and have simple conversation. They do not meet the diagnostic criteria for AS, and their symptoms were milder than those of previously reported cases with this specific mutation. This report indicates the expanding spectrum of the CEP290 variant.

Prenatal Diagnosis of Bladder Exstrophy and OEIS over 20 Years.

OBJECTIVE: To examine the prenatal diagnosis rates of bladder exstrophy (BE) and Omphalocele-Exstrophy-Imperforate anus-Spinal Defect Syndrome (OEIS) in a large cohort of patients over a 20-year period. We hypothesized that prenatal diagnosis rates improved over time due to evolving techniques in fetal imaging. METHODS: A multi-institutional database was queried to identify BE or OEIS patients who underwent primary closure between 2000 and 2020. We retrospectively determined prenatal or postnatal diagnosis. Those with unknown prenatal history were excluded. Multivariable logistic regression was used to investigate temporal pattern in rate of prenatal diagnosis while adjusting for sex and treating institution. RESULTS: Among 197 BE and 52 OEIS patients, 155 BE and 45 OEIS patients had known prenatal history. Overall prenatal diagnosis rates of BE and OEIS were 47.1% (73/155) and 82.2% (37/45), respectively. Prenatal diagnosis rate was significantly lower in BE compared to OEIS (P <.0001). The prenatal diagnosis rate for BE significantly increased over time (OR 1.10; [95%CI: 1.03-1.17]; P = .003). Between 2000 and 2005, the prenatal diagnosis rate of BE was 30.3% (10/33). Between 2015 and 2020, prenatal diagnosis rate of BE was 61.1% (33/54). Prenatal diagnosis rate for OEIS did not change over time. Rates of prenatal diagnosis did not differ by sex or treating institution. CONCLUSION: Rates of prenatal diagnosis of BE and OEIS are higher than previously reported. Prenatal diagnosis rate of BE doubled in the last 5 years compared to the first 5 years of the study period. Nonetheless, a significant proportion of both BE and OEIS patients remain undiagnosed prior to delivery.

MRI presentations of Müllerian duct anomalies in association with unilateral renal agenesis.

AIM: To evaluate the presentations of Müllerian duct anomalies (MDAs) associated with unilateral renal agenesis (URA) on magnetic resonance imaging (MRI). MATERIALS AND METHODS: From 2014 to 2021, 92 patients with MDAs coexisting with URA who had undergone MRI were reviewed, and imaging patterns were analysed. RESULTS: Based on the different imaging patterns, there were 74 cases of Herlyn-Werner-Wunderlich (HWW) syndrome (80.4%), nine cases of unicornuate uterus (10.9%), and nine cases of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome (8.7%). In HWW syndrome, URA was ipsilateral to the vaginal or cervical obstruction. All the nine cases of unicornuate uterus were obstructive, and the most common subtype was unicornuate uterus with a non-communicating functioning rudimentary horn. The other two cases of unicornuate uterus with no rudimentary horn were obstructed due to cervical os obliteration, one of which was complicated with contralateral absent ovary. URA was contralateral to the unicornuate uterus in all cases. In MRKH syndrome, seven patients had bilateral rudiments and ovaries, all of which were unilaterally or bilaterally located above the pelvic brim, and URA was ipsilateral to the ectopic ovary in all cases. The other two patients had unilateral absent rudiment, ovary, and ipsilateral URA. CONCLUSIONS: MRI presentations of URA-associated MDAs are diverse, with HWW syndrome being the most common form, followed by different patterns of unicornuate uterus and MRKH syndrome. An ectopic or absent ovary might be associated with URA in MRKH syndrome and unicornuate uterus.

Síndrome del incisivo central maxilar medio único en neonato / Solitary median maxillary central incisor syndrome in neonates / Síndrome do incisivo central maxilar médio solitário em neonatos

Introducción: el síndrome del incisivo central maxilar medio único (SMMCI) es un trastorno de etiología desconocida, con base genética heterogénea, que se caracteriza por la erupción de un único incisivo central en el maxilar y que se puede relacionar con multitud de patologías y síndromes, entre los que destacan las alteraciones de la línea media, obstrucción nasal congénita, disfunción hipofisaria, talla baja y holoprosencefalia. Caso clínico: neonato mujer con síndrome dismórfico no filiado y obstrucción nasal congénita, que es diagnosticada de SMMCI tras consultar en repetidas ocasiones por cuadros de dificultad respiratoria y problemas para alimentarse. Conclusiones: el conocimiento de este raro síndrome es fundamental para la realización de un diagnóstico precoz por parte del equipo pediátrico y obstétrico, ya que un diagnóstico temprano es posible, mejorando la evaluación prenatal ecográfica, así como el adecuado manejo posnatal multidisciplinar posterior de nuestros pacientes.

Introduction: the Solitary Median Maxillary Central Incisor Syndrome (SMMCI) is a disorder of unknown etiology, with a heterogeneous genetic basis, characterized by the eruption of a single central incisor in the maxilla and that can be linked to various pathologies and syndromes, among which the alterations of the midline, congenital nasal obstruction, pituitary dysfunction, short stature and holoprosencephaly stand out. Clinical case: female newborns with unknown dysmorphic syndrome and congenital nasal obstruction, diagnosed with SMMCI after repeated consultations due to respiratory distress and feeding problems. Conclusions: understanding this rare syndrome is essential for an early diagnosis to be carried out by the pediatric and obstetric team, since it will improve the ultrasound prenatal assessment, as well as the adequate subsequent multidisciplinary postnatal patient management procedures.

Introdução: a síndrome do incisivo central maxilar médio solitário (SICMMS) é uma desordem de etiologia desconhecida, com base genética heterogênea, caracterizada pela erupção de um único incisivo central na maxila e que pode estar relacionada a uma infinidade de patologias e síndromes. onde se destacam alterações da linha média, obstrução nasal congênita, disfunção hipofisária, baixa estatura e holoprosencefalia. Caso clínico: recém-nascida com síndrome dismórfica de origem desconhecida e obstrução nasal congênita, diagnosticada com SICMSS após várias consultas por desconforto respiratório e problemas de alimentação. Conclusões: o conhecimento desta rara síndrome é essencial para que a equipe pediátrica e obstétrica possa fazer um diagnóstico precoce, pois ele pode melhorar a avaliação ultrassonográfica pré-natal, bem como o adequado manejo pós-natal multidisciplinar pós-natal dos pacientes.

Prenatal Phenotype of Kabuki Syndrome: Seven Case Series.

INTRODUCTION: Kabuki syndrome (KS) is a multiple congenital anomaly syndrome with characterized facial features. The aim of study was to report on prenatal sonographic findings associated with KS in 7 Chinese families. CASE PRESENTATION: During the study period, 7 families of KS were diagnosed. Variants of KMT2D were detected in 4 cases, and variants of KDM6A in 3 cases. For cases with KMT2D variants, cleft palate was the only finding on second-trimester ultrasound in 2 cases. One case presented with polyhydramnios in late third trimester. One case showed ventricular septal defect and renal anomaly at 22 weeks gestation. For cases with KDM6A variants, one was detected at 22 weeks to have coarctation of the aorta. One presented with third-trimester intrauterine growth restriction. The other with hypoplastic left heart had a maternal KDM6A variant c.1227_1228del. Further family study showed that this variant was also present in the healthy maternal mother, but not in the healthy maternal father and two maternal brothers. The two female carriers were healthy. DISCUSSION/CONCLUSION: Although there is no specific ultrasound feature which has both high sensitivity and high positive predictive value for KS, this disorder should be considered as a differential diagnosis in fetuses with congenital anomalies including polyhydramnios with normal karyotyping/microarray analysis.

Preoperative MRI presentations of Herlyn-Werner-Wunderlich syndrome.

Herlyn-Werner-Wunderlich (HWW) syndrome is a rare complex female urogenital anomaly, with diverse anatomical presentations. Due to obstruction, most patients with HWW syndrome need to be addressed surgically. The treatment strategy should be tailored to the different anatomical variants of each patient. Therefore, a detailed and comprehensive preoperative evaluation is needed. In this review, we describe the embryology and clinical manifestations of HWW syndrome and discuss and illustrate its diverse preoperative magnetic resonance imaging presentations to guide clinical treatment.

Prenatal ultrasound findings associated with PIGW variants: One more piece in the FRYNS syndrome puzzle? PIGW-related prenatal findings.

OBJECTIVE: We describe the prenatal ultrasound findings and autopsy of three fetuses with multiple congenital anomalies (MCA) whose diagnostic workup suggested the same genetic etiology. We conducted a literature review to corroborate the molecular results and find evidence that the identified variants are responsible for the phenotype seen. METHODS: Trio-based Exome Sequencing (ES) analysis was performed on chorionic villus samples. We reviewed available reports dealing with prenatal manifestations of genes involved in the Glycosylphosphatidylinositols (GPI) biosynthesis defects (GPIBDs). RESULTS: Prenatal findings shared by all the three pregnancies included facial dysmorphisms, brain malformations of the posterior fossa, skeletal and genitourinary anomalies. ES analysis identified homozygous variants of uncertain significance in PIGW in the three fetuses. Prenatal findings of the three pregnancies overlapped with those previously described for PIGW variants and with those associated with PIGN, PIGV and PIGA variants. CONCLUSION: Based on the phenotypic overlap between the prenatal findings in our three cases and other cases with pathogenic variants in other genes involved in GPIBDs, we speculate that the variants identified in the three fetuses are likely causal of their phenotype and that the PIGWclinical spectrum might extend to MCA, mainly involving brain, skeletal and genitourinary systems. Moreover, we suggest that also PIGW could be involved in Fryns/Fryns-like phenotypes.

Prenatal diagnosis of Coffin-Siris syndrome: What are the fetal features?

OBJECTIVE: To present both our center's and previously reported experience of prenatal diagnosis of Coffin-Siris syndrome (CSS) with regard to the laboratory testing and fetal features of this syndrome. METHODS: This was a retrospective study of eight pregnancies with fetal CSS identified by prenatal or postnatal genetic testing. Clinical and laboratory data were collected and reviewed for these cases, including maternal demographics, prenatal sonographic findings, chromosomal microarray and exome sequencing (ES) results, and pregnancy outcomes. RESULTS: A total of eight cases of fetal CSS based on molecular testing were detected. Two cases presented with an increased nuchal translucency (NT) in the first trimester. The remaining six were identified at the second trimester scan. Agenesis of the corpus callosum (ACC) was the most common sonographic finding, accounting for 5/7 (71.4%) cases in which a second trimester sonogram was performed: four had ACC as an isolated finding, and one had additional features of cerebellar hypoplasia and left congenital diaphragmatic hernia. CONCLUSION: CSS should be included in the differential diagnosis when ACC is found by prenatal ultrasound. Both chromosomal microarray and ES should be options when counseling patients with a structurally anomalous fetus.

A case report of serpentine-like syndrome and review of literature.

BACKGROUND: Serpentine-like syndrome (SLS) is a rare foetal abnormality, characterized by brachioesophagus, secondary intrathoracic stomach and vertebral deformity. Herein, we report a case of SLS diagnosed based on imaging, genetic examination and autopsy findings. CASE PRESENTATION: From the 19th to 23rd weeks of gestation, the foetus presented with brachioesophagus, secondary intrathoracic stomach, intrathoracic spleen with poly-spleen malformation, spinal deformity and diaphragm dysplasia, and some abdominal organs were partly located in the thoracic cavity. After extensive counselling, the couple opted to terminate the pregnancy. Whole genome sequencing and autopsy were performed. Then, the foetus was diagnosed with SLS. DISCUSSION AND CONCLUSIONS: SLS is characterized by multiorgan deformities and is associated with poor prognosis. Multiorgan deformities can be detected on prenatal sonography using three-dimensional ultrasound technology.

Multiple vas deferens with polyorchidism and many congenital malformations in a symptomatic 11-year-old male patient: a rare case report.

BACKGROUND: Ductus deferens may manifest in a variety of anomalies such as its absence, duplication, ectopy, or diverticulum. Ectopic seminal tract opening has two main types, ectopic ejaculatory duct opening, and ectopic vas deferens opening. Generally, ductus deferens anomalies affect approximately 0.05% of the population. Patients may be asymptomatic or complaining of urinary tract infections and/or epididymitis. Most of these cases are associated with renal dysplasia. To confirm the diagnosis Cystourethroscopy catheterization and retrograde urethrogram should be performed, but the definitive diagnosis is done by vasography. The definitive treatment is complete surgical resection of the pathological urogenital connection. This case is commonly discovered while exploring other findings such as testicular torsion and inguinal hernia. CASE PRESENTATION: We report a rare case of an 11-year-old male who presented with gross hematuria and numerous congenital malformations including a left polydactyly clubfoot, polyorchidism, with several surgical procedures, and left kidney dysgenesis. Surgery was performed for a left inguinal hernia, during which a third undescended testicle was discovered incidentally and was eradicated. A retrograde urethrogram was performed to establish the diagnosis. A fistula- that is connected with the left ureter- was resected. The histopathologic findings confirmed the diagnosis of true duplication of the Vas deferens, with communication between the ureter and the vas deferens. By follow-up, the kidney function tests were within normal limits. CONCLUSIONS: This case report aims to highlight the early diagnosis and management of the duplicated vas deferens and the associated congenital malformations to improve the prognosis and kidney function and to avoid long-term complications.

Prenatal work-up, associated anomalies and postnatal outcomes of foetuses with 9-9.9 mm cerebral ventricular atria width.

OBJECTIVE: To analyse prenatal work-up, associated anomalies and postnatal outcomes of foetuses with cerebral lateral ventricular width 9-9.9 mm. METHOD: This retrospective, observational, case-control study included 121 foetuses with initial presentation of isolated cerebral lateral ventricular width 9-9.9 mm detected during routine ultrasound scans, 21-24 weeks' gestation, in a tertiary referral centre, January 2001-December 2018. Controls included 123 foetuses with lateral ventricular width <9 mm measured under the same parameters. Clinical characteristics, obstetrical history, ultrasound findings, prenatal work-up and pregnancy outcomes were collected from medical records. Information about postnatal functional and neurodevelopmental sequelae were obtained from telephone-based questionnaires. RESULTS: The study group had more males (82/116 (70.6%) versus 65/123 (52.8%), p = 0.004), more prenatal testing, including brain magnetic resonance imaging (28/116 (24.1%) versus 0/123 (0%), p < 0.001), echocardiography (46/116 (39.7%) versus 15/123 (12.2%), p < 0.001) and targeted anomaly scans (102/116 (87.9%) versus 1/123 (0.008%), p < 0.001). Long-term follow-up did not reveal more neurodevelopmental sequelae compared to controls. Gender-based analysis found more males with ventricular dilatation 9-9.9 mm treated for developmental delay compared to females with similar findings (15/82 (18.2%) versus 1/34 (2.9%), p = 0.010). CONCLUSION: Foetuses with 9-9.9 mm cerebral lateral ventricular width versus <9 mm underwent more prenatal testing but had similar rates of neurodevelopmental sequelae.