Agenesis of the Ductus Venosus and Its Association With Genetic Abnormalities.

OBJECTIVE: To investigate the association of agenesis of the ductus venosus (ADV) with genetic abnormalities using genetic studies-Chromosomal Microarray Analysis (CMA) and Exome Sequencing (ES). DESIGN: Retrospective study of all fetuses diagnosed with ADV between January 2013 and December 2022 in a tertiary center. RESULTS: ADV was diagnosed in 33 fetuses. The diagnosis was made at a mean gestational age of 21.2 ± 8.4 weeks. Conventional karyotype was applied in a single fetus (3.0%), CMA was applied in 21 fetuses (66.7%), and five fetuses (22.8%) were additionally tested with ES. ADV was isolated in eight fetuses (24%), whereas in 25 (76%) it was associated with abnormal ultrasound findings, including increased nuchal translucency (NT), intrauterine growth restriction (IUGR) and variable structural malformations, mostly cardiac (42%) followed by central nervous system (CNS) and skeletal malformations (24%). Genetic abnormalities were found in six fetuses out of 22 investigated (27%), of which 3 were detected by ES, 3 by CMA and 1 by conventional karyotype. A higher incidence of genetic aberrations was evident among ADVs associated with abnormal ultrasound findings. Genetic abnormalities were indicative of Prader Willi/Angelman syndrome, Noonan syndrome, CASK related disorder, 16q24.3 microdeletion syndrome and Trisomy 21. CONCLUSION: ADV associated with abnormal ultrasound findings is commonly correlated with genetic abnormalities and consequently unfavorable pregnancy outcomes. Our study emphasizes the value of genetic studies chiefly among cases associated with abnormal ultrasound findings, enabling early diagnosis of fetal pathologies associated with ADV, and providing better parental counseling.

Recurrent positional unilateral pulmonary edema following CABG: an uncommon case report.

We reported a case of pericardial agenesis discovered at the age of 60 during coronary artery bypass grafting surgery. However, this anomaly was not treated during the initial surgery. During the post-operatory period, the patient developed recurrent unilateral right pulmonary edema whenever assuming a semi-upright position. We hypothesized that the positional hemodynamic alterations in this patient were related to this rare congenital anomaly. The patient underwent reoperation, 48 hours later, with synthetic pericardial reconstruction and experienced an uneventful recovery during follow-up.

Corpus callosal agenesis with gray matter heterotopia and bilateral eye coloboma in an infant: A case report.

Corpus callosal agenesis (CCA) is a rare congenital disorder characterized by the partial or complete absence of the corpus callosum, a structure crucial for interhemispheric communication. CCA can occur in isolation or be associated with other anomalies such as heterotopia, holoprosencephaly, cerebellar hypoplasia, coloboma, and hydrocephalus. The prevalence of CCA ranges from 0.020% to 0.025%, though some reports suggest higher rates. This case report describes a 1-year-old male with developmental delays and no significant antenatal or family history. MRI revealed a complete absence of the corpus callosum, asymmetrically dilated lateral ventricles, subependymal gray matter nodules suggestive of gray matter heterotopia, and bilateral posterior globe defects with vitreous herniation, indicating severe ocular anomalies. The child received supportive care including physical therapy and special education services, with regular follow-ups for developmental and ophthalmologic evaluation. This case report details the rare occurrence of CCA, accompanied by gray matter heterotopia and bilateral posterior eye coloboma in a pediatric patient. The combination of these congenital anomalies presents unique diagnostic and management challenges requiring multidisciplinary care. We discuss the clinical presentation, radiological findings, and implications for supportive care and improving the prognosis.

Complete dorsal wall agenesis of the sacral canal in a Greek population: an osteological study.

INTRODUCTION: The failure of closure of the dorsal wall of the sacral canal (SC) has been known since the eve of modern osteology, appearing in prehistoric times. Variants include partial or complete absence of the dorsal wall of the SC. SC presents a pathway for minimally invasive therapeutic and diagnostic procedures for spinal diseases and for ensuring analgesia and anesthesia in operations, including labor and genitourinary surgery.

Prenatal Ultrasound Diagnosis of Unilateral Pulmonary Agenesis.

Pulmonary agenesis (PA) is a rare developmental malformation, with a frequency of approximately 1 in 10-15,000 pregnancies. Unilateral PA is often associated with other congenital anomalies, whereas bilateral PA is fatal. Prenatal diagnosis is rare and is diagnosed more frequently in the postnatal period than in the prenatal period. Is a challenge that may be difficult as it shares similar features with other more common pathologies. Ultrasound plays a crucial role in early diagnosis and management. Ultrasonographic findings for a correct prenatal diagnosis include mediastinum displacement with the absence of parenchymal or cystic tissue, decreased thoracic volume, an elevated diaphragm, cardiac axis deviation, and a hemithoracic cavity largely occupied by the heart. Cases of right PA have a worse prognosis compared to left PA, probably due to higher frequency of cardiac and great vessel abnormalities. A rare case of early prenatal ultrasound diagnosis of unilateral fetal PA, at 18 weeks of gestation, is reported.

Evaluating the efficiency of mandibular molar protraction using Herbst appliances versus temporary anchorage devices: a retrospective case-controlled study.

BACKGROUND: Mandibular second premolar agenesis is a common problem in orthodontics and is often treated in conjunction with maxillary counterbalancing extractions. However, in cases without maxillary crowding or dental protrusion, space closure may pose challenges leading to compromised occlusal results or patient profile. Multiple techniques have been described to treat these patients; nevertheless, there is a paucity of data comparing effectiveness of space closure utilizing various anchorage techniques. The goal of this study is to assess the effectiveness of the Herbst device during mandibular molar protraction and compare it to the use of temporary anchorage device (TADs) in patients with mandibular second premolar agenesis. MATERIALS AND METHODS: This retrospective study included 33 patients with mandibular premolar agenesis treated without maxillary extractions. Of these patients, 21 were treated with protraction Herbst devices and 12 with TADs. Changes in molar and incisor positions, skeletal base positions and occlusal plane angulations were assessed on pretreatment (T0) and post-treatment (T1) lateral cephalograms. Scans/photographs at T0 and T1 were used to evaluate canine relationship changes representing anchorage control. Space closure and breakage/failure rates were also compared. Data was analyzed with paired and unpaired t-tests at the significance level of 0.05. RESULTS: Within the Herbst group, changes in mandibular central incisor uprighting and mandibular molar crown angulations were statistically significant. However, no significant differences were noted between the Herbst and TAD groups. Protraction rates as well as overall treatment times were comparable (0.77 mm/month vs. 0.55 mm/month and 3.02 years vs. 2.67 years, respectively). Canine relationships were maintained or improved toward a class I in 82.85% of the Herbst sample, compared to in 66.7% of the TAD sample. Emergency visits occurred in 80.1% of the Herbst group, with cementation failures or appliance breakages as the most common reasons. CONCLUSION: The Herbst device could be a viable modality in cases with missing mandibular premolars where maximum anterior anchorage is desired, or if patients/parents are resistant to TADs. Furthermore, they could be beneficial in skeletal class II patients with mandibular deficiency who also need molar protraction. However, the increased incidence of emergency visits must be considered when treatment is planned.

Evaluation of the scrotal thermal environment and the testicular sizes in prepubertal hemiscrotal agenesis without cryptorchidism.

Introduction: Hemiscrotal agenesis is a rare scrotal developmental disorder. Orchiopexy on the opposite side of the scrotum with rugae or scrotoplasty combined with orchiopexy is usually performed as a surgical treatment for hemiscrotal agenesis with cryptorchidism. Till date, there are only eight published case studies of hemiscrotal agenesis. Case presentation: A 6-year-old boy, who had been previously treated for infantile hemangiomas, was referred by a pediatrician to our hospital for the follow-up of hemiscrotal agenesis without cryptorchidism. Thermography demonstrated that the temperature of the right scrotal skin with no rugae was higher than that of the left scrotal skin with rugae. The patient's parent declined scrotoplasty because the hemiscrotal agenesis was to be followed up without scrotoplasty and scrotal ultrasonography revealed no abnormal findings in both testes. Conclusion: High-temperature environment may not impair the testicular growth in prepubertal hemiscrotal agenesis without cryptorchidism.

Bilateral internal carotid artery agenesis coexisting with bovine aortic arch: case report and literature review.

This case study aims to elucidate the rare occurrence of bilateral internal carotid artery agenesis combined with a bovine aortic arch. The main objectives are to explore the incidence, embryological origins, clinical manifestations, and associated anomalies of this unique vascular condition. The study involves a detailed investigation of a 55-year-old male with a history of recurrent transient ischemic attacks (TIAs) using MRI and CT scan. The patient's medical history, clinical examination, and imaging results were systematically analyzed to provide a thorough understanding of the anatomical variations. The main findings include the rare coexistence of bilateral ICA agenesis and a bovine aortic arch, making this the 39th documented occurrence of bilateral ICA agenesis and the first recorded instance of its association with a bovine aortic arch. Also, the study highlighted the demographic characteristics, clinical presentations, and associated anomalies observed in the 38 documented cases of bilateral internal carotid artery agenesis. This case report contributes valuable insights into the rarity of bilateral internal carotid artery agenesis and its unprecedented association with a bovine aortic arch. The findings emphasize the importance of heightened anatomical awareness in clinical practice, particularly. Recognizing and understanding such variations is crucial for accurate diagnosis, appropriate management, and improved patient outcomes. Further research in this area is warranted to deepen our understanding of these complex vascular anomalies.

Total cerebellar agenesis: A case report of a very rare condition.

Complete cerebellar agenesis is an extremely rare condition characterized by the complete absence of cerebellar tissue. Only a small number of cases have been reported, with varying motor and cognitive deficits. We describe a case of an 11-month-old baby with developmental delay, whose CT scan evaluation showed the complete absence of the cerebellum with no other associated cerebral malformation.

Unmasking of Agenesis of Right Pulmonary Artery with Unilateral Absence of Perfusion on Lung Scintigraphy.

We present a rare finding on lung ventilation-perfusion (V/Q) scintigraphy for a woman with longstanding dyspnea. CT of the chest showed volume loss on the right side, which raised concern about possible bronchiolitis obliterans or Swyer-James-MacLeod syndrome; however, the right pulmonary artery could not be visualized. A subsequent V/Q scan showed absence of perfusion and decreased ventilation to the entire right lung, consistent with agenesis of the right pulmonary artery. The patient's clinical course and imaging features mimicked Swyer-James-MacLeod syndrome, which usually presents with a matched perfusion defect in a single lung or lobe on V/Q scanning. This case highlights the importance of a multimodality imaging approach to achieve a diagnosis.

Ophthalmic artery originating from contralateral internal carotid artery associated with ipsilateral agenesis of internal carotid artery.

Congenital absence of the internal carotid artery is a rare anatomical variant. The primarily reported origins of the ophthalmic artery associated with this variant are the posterior communicating, middle cerebral, and external carotid arteries. We report the case of a patient without an internal carotid artery whose ophthalmic artery originated from the contralateral internal carotid artery. The superior hypophyseal and prechiasmal arteries may contribute to collateral flow to the orbit from the contralateral internal carotid artery.

Lumbar pedicular agenesis: Case report and a review of the literature.

Lumbar pedicular agenesis is a rare clinical and radiological finding. Therefore, it is commonly misdiagnosed, particularly in trauma cases, with the first case being reported by Hadley in 1946. Pedicle agenesis has specific radiographic features: a falsely appearing enlarged neural foramen; a dysplastic, dorsally displaced ipsilateral articular pillar and lamina; and a dysplastic ipsilateral transverse process. Computed tomography (CT) is the preferred diagnostic modality for pedicle agenesis and it is important to note that pedicle agenesis is a stable congenital anomaly. Typically, these patients do not exhibit neurological deficits and are managed conservatively or receive no treatment. In this case report, we will be reporting a case involving the absence of L5 left pedicle.

Internal Carotid Artery Hypoplasia Misidentified as Internal Carotid Artery Dissection.

Agenesis or hypoplasia of the internal carotid artery (ICA) may easily be confused with dissection or occlusion. We report a case of a 24-year-old female with complaint of acute left-hand hypoesthesia and a history of occasional intermittent numbness of her right hand with myoclonic jerking. Because previous imaging studies over 2 years were interpreted as occlusion of the left ICA secondary to carotid dissection, the treating physician had prescribed anticoagulant therapy. During transcranial Doppler (TCD) examination, the spectral waveform was unexpectedly normal, prompting a repeat review of all imaging due to the TCD results. Magnetic resonance angiography (MRA) revealed the same "flame-like" appearance of the ICA origin. Late-phase digital subtraction angiography showed a small caliber cervical ICA (occluded at the skull base). Computed tomography demonstrated absence of the carotid canal, confirming an absent intracranial portion of the ICA and establishing a correct diagnosis of left internal carotid hypoplasia. Vascular ultrasound and TCD examinations are noninvasive and inexpensive tools that can improve the interpretation and understanding of the clinical significance of other "static" radiographic tests (MRA, digital subtraction angiography ). An accurate diagnosis is essential to avoid risky, aggressive treatment, such as anticoagulation for an "absent" dissection.

Optimizing sacral screw fixation in patients with caudal regression syndrome.

PURPOSE: The aim of this study is to evaluate and compare techniques and outcomes associated with two different technique of pelvic screw insertion in patients with caudal spine absence. METHODS: A cohort of patients with varying degrees of caudal structural regression, serves as the focal point of this investigation. Pelvic configurations were classified based on established criteria to facilitate comparative analysis. Each patient underwent spinal surgical interventions, with a follow-up period extending beyond 2 years. The primary surgical interventions predominantly involved spinal stabilization coupled with correction of scoliosis and kyphosis through one or two pairs of pelvic screws. RESULTS: In this study, we investigated a cohort of 22 patients with caudal spine absence, encompassing diverse conditions, such as lumbo-sacral aplasia, hemisacrum, and lumbar absence, with preserved sacrum. Following spinal surgery, notable improvements were observed in scoliosis and pathological lumbar kyphosis, with several patients achieving significant functional milestones such as independent ambulation. There were no significant differences in short-term complications between patients undergoing single versus double pair pelvic screw implantation. Long-term complications, primarily non-fusion, were notably more prevalent in patients undergoing fixation with a single pair of pelvic screws. CONCLUSION: Surgical intervention, particularly spinopelvic fixation, demonstrated promising outcomes in terms of improving spinal deformities. The implantation of two pairs of pelvic screws demonstrates greater reliability compared to the insertion of a single pair, diminishing the risk of non-fusion.

Bridging the spinal dysraphism spectrum between terminal myelocystocele and spinal cord lipoma: a report of two cases of true terminal lipomyelocystocele with holo-cord syrinx.

Terminal myelocystocele (TMC) is a rare form of spinal dysraphism which arises due to aberration in the secondary neurulation process involving the caudal cell mass. Terminal myelocystocele has been defined by Pang et al. based on essential and non-essential features. One of the non-essential features includes non dysraphic lipomas which do not tether to the neural placode. We are presenting two cases which meets all the essential criteria outlined by Pang et al. for TMC but also show the presence of a lipomatous component tethering to the neural placode, similar to a dysraphic lipoma. Through this article, we want to showcase a subset which represents "true" terminal lipomyelocystocele (TLMC), bridging the spectrum of spinal dysraphism between TMC and lipomyelomeningocele (LMM).

Bronchogenic Cyst and Pericardial Agenesis: A Case Report.

Bronchogenic cysts are a rare congenital condition, and their association with pericardial agenesis is even more uncommon. We present the case of a 23-year-old patient who was diagnosed with an upper lobe bronchogenic cyst and subsequently underwent an upper lobectomy. Further evaluation revealed the presence of complete left pericardial agenesis.

A novel PAX9 variant in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9variants.

OBJECTIVES: This study aimed to identifyPAX9variants in non-syndromic tooth agenesis families of China, as well as to analyze the genotype⁃phenotype of non-syndromic tooth agenesis caused by PAX9variants, which can provide a basis for the genetic diagnosis of tooth agenesis. METHODS: We collected the data of 44 patients with non-syndromic oligodontia who underwent treatment at Stomatological Hospital of Hebei Medical University between 2018 and 2023. Whole-exome sequencing was performed on the peripheral blood of the proband and its core family members, and the variants were verified by Sanger sequencing. Pathogenicity analysis and function prediction of the variants were performed using bioinformatics tools. The correlation between the genotype of PAX9 variant and its corresponding phenotype was examined by reviewing 55 publications retrieved from PubMed. The studies involved 232 tooth agenesis patients with PAX9 variants. RESULTS: A novel PAX9 c.447delG (p.Pro150Argfs*62) and a reported PAX9 c.406C>T (p.Gln136*) were identified in two Chinese families. Through bioinformatics analysis and three-dimensional structural modeling, we postulated that the frameshift variant was pathogenic. The outcome was the premature cessation of PAX9 protein, which caused severe structural and functional deficiencies. Summarizing the PAX9 genotype-phenotype relationship revealed that patients carrying the PAX9 variant commonly led to loss of the second molars. CONCLUSIONS: We identified the novel PAX9 c.447delG (p.Pro150Argfs*62) in a Chinese family of non-syndromic oligodontia, expanding the known variant spectrum of PAX9. The most susceptible tooth position for PAX9 variants of tooth agenesis was the second molars and the deciduous molars during the deciduous dentition.

Pediatric Zinner syndrome variants: Case series with newer insights into pathogenesis in early childhood.

INTRODUCTION: Zinner Syndrome (ZS) is a rare congenital disorder characterized by seminal vesicle cysts (SVC) and ipsilateral upper urinary tract abnormalities, mainly due to developmental anomalies of the mesonephric duct. This series highlights our institutional experience with pediatric ZS, with a review of the current literature offering insights into its etiopathogenesis in early childhood. MATERIAL AND METHODS: A retrospective case review of pediatric ZS diagnosed at our institution from 2019 to 2023, alongside a comprehensive literature review. RESULTS: Four pediatric ZS cases were identified, a neonate, an infant and two older (pre-pubertal) children, presenting with recurrent epididymo-orchitis and/or UTIs. The two older children had duplex systems, both undergoing curative upper moiety heminephrectomy; the infant underwent nephroureterectomy and the neonate is under observation, asymptomatic for past 18 months. DISCUSSION: When Zinner identified the link between unilateral renal agenesis and ipsilateral SVC in 1914, the condition's embryological basis was attributed to incorrect ureteric bud migration from the mesonephric duct, failing to stimulate the metanephros, leading to renal agenesis/dysplasia and this disruption was hypothesized to obstruct seminal vesicle drainage, causing cyst formation. Another theory suggests anomalous development of the distal mesonephric duct leading to ejaculatory duct atresia/stenosis which results in cystic enlargement of the seminal vesicles which, in turn, leads to aberrant ureteral budding, resulting in renal malformations. It is our belief that the SVCs, that are typically problematic in adolescence/adulthood due to secretion accumulation, sometimes manifest in childhood due to urinary reflux into the seminal vesicles, leading to epididymo-orchitis or UTIs. This contrasts with adult pathogenesis, where ejaculatory duct obstruction predominates. Hence, treatment leans towards a conservative approach for asymptomatic cases, with surgery reserved for symptomatic children. The scope of this case series is limited by the rare nature of ZS in prepubertal children (41 published cases in English literature), preventing a comprehensive understanding of its untreated natural history and restricting the formulation of generalized recommendations. CONCLUSION: The variability in presentation of ZS in children necessitates a tailored approach. Unlike adults, where ejaculatory duct obstruction is the common cause, pediatric ZS symptoms mainly stem from urethra-cystic reflux, leading to recurrent infections.

A case study of transneovaginal oocyte retrieval after novel Lee's neovaginoplasty in Mayer-Rokitansky-Küster-Hauser syndrome.

OBJECTIVE: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital disorder that results in vaginal agenesis. Lee's neovaginoplasty is a novel surgery for reconstructing the vagina. Transneovaginal oocyte retrieval completely changes the scope of fertility for patients with MRKH syndrome who have undergone neovaginal reconstruction. CASE REPORT: A 22-year-old female with type 1 MRKH syndrome underwent Lee's neovaginoplasty successfully. Four years later, she sought embryo cryopreservation consultation and underwent controlled ovarian hyperstimulation. Upon examination, her anti-Müllerian hormone level was 1.97 ng/ml and she had only eight antral follicles. The neovaginal length was 8 cm with elasticity and extensibility. Transneovaginal oocyte retrieval was performed under ultrasound guidance, and seven oocytes were retrieved. The follicle-to-oocyte index was 87.5%. CONCLUSION: Lee's neovaginoplasty is a promising surgery for reconstructing the vagina in MRKH syndrome, and this case shows that transneovaginal oocyte retrieval can be successfully performed after vaginal reconstruction. This technique provides a minimally invasive option for retrieving oocytes in patients of MRKH syndrome.