UNASSIGNED: The etiology and risk factors of congenital vertebral anomalies are mainly unclear in isolated cases. Also, there are no reports on the risk factors for different subgroups of vertebral anomalies. Therefore, we assessed and identified potential maternal risk factors for these anomalies and hypothesized that diabetes, other chronic diseases, smoking, obesity, and medication in early pregnancy would increase the risk of congenital vertebral anomalies.
UNASSIGNED: All cases with congenital vertebral anomalies were identified in the Finnish Register of Congenital Malformations from 1997 to 2016 for this nationwide register-based case-control study. Five matched controls without vertebral malformations were randomly selected. Analyzed maternal risk factors included maternal age, body mass index, parity, smoking, history of miscarriages, chronic diseases, and prescription drug purchases in early pregnancy.
UNASSIGNED: The register search identified 256 cases with congenital vertebral malformations. After excluding 66 syndromic cases, 190 non-syndromic malformations (74 formation defects, 4 segmentation defects, and 112 mixed anomalies) were included in the study. Maternal smoking was a significant risk factor for formation defects (adjusted odds ratio 2.33, 95% confidence interval 1.21-4.47). Also, pregestational diabetes (adjusted odds ratio 8.53, 95% confidence interval 2.33-31.20) and rheumatoid arthritis (adjusted odds ratio 13.19, 95% confidence interval 1.31-132.95) were associated with mixed vertebral anomalies.
UNASSIGNED: Maternal pregestational diabetes and rheumatoid arthritis were associated with an increased risk of mixed vertebral anomalies. Maternal smoking increases the risk of formation defects and represents an avoidable risk factor for congenital scoliosis.
UNASSIGNED: III.

The Spigelian hernia is a abdominal wall hernia that originates from a discontinuity of the Spigelian fascia located lateral to the rectus abdominis muscle. It can be acquired in adults or congenital in newborns. In very rare cases in male it can be associated with cryptorchidism, in which case it is known as \"Spigellian-Cryptorchidism Syndrome\". It can be clinically highlighted with abdominal swelling wall along the semilunar line and intestinal obstruction. The diagnosis, as in all pediatric emergencies, must be timely and the method of choice is ultrasound which allows a rapid localization of the hernia breach and herniated structures. The treatment of choice is surgical with herniopexy and repositioning of the testicle into the scrotal sac, or orchipessy in cases of testicular necrosis. We describe ultrasound characteristics of Spigellian-cryptorchidism syndrome presenting with acute intestinal obstruction in a newborn.

Omphalocele, a congenital anomaly characterized by the protrusion of abdominal viscera through the umbilical ring, often presents challenges in surgical management, especially when concurrent with other anomalies such as intestinal atresia. We presented a case of a female infant weighing 2.6 kg born with omphalocele and concurrent ileal atresia. The child was successfully managed through prompt surgical intervention. Preoperative investigations revealed signs suggestive of intestinal obstruction, necessitating immediate surgical exploration. Intraoperatively, meticulous reduction of the omphalocele sac and resection of the atretic segment were performed. Postoperative care in the neonatal intensive care unit ensured optimal recovery. This case underscored the importance of timely intervention and multidisciplinary collaboration in managing complex congenital anomalies in neonates.

Branchiogenic fistulas are congenital alterations that affect the cervical compartments. Those of the fourth branchial cleft are rarest and can begin late with very serious complications. The suppurative thyroiditis can be a complication of these alterations. We describe a case of 3-year-old girl with high fever, left cervical swelling and increased inflammation indices. The neck ultrasound showed an abscess of the left thyroid lobe and a fluid mass with aerial content in laterocervical region. On MRI, the fluid mass extended from the left piriform sinus to the mediastinum. Fluoroscopy also highlighted a fistolose trait that extended from the left side wall of the esophagus, anteriorly towards the trachea. Treatment of these pathologies must be early and a late diagnosis can put patients\' lives at risk.

OBJECTIVE: We encountered patients with a congenital cutaneous sinus tract in the sternoclavicular joint region, which we designate as \"congenital sternoclavicular sinus (CSCS).\" The aim of this investigation is to enhance recognition of this subtle yet noteworthy entity and develop standardized protocols for its management.
METHODS: Between 2013 and 2023, 172 patients, including 78 males and 94 females, were referred to our institution for the management of CSCS. Clinical charts were retrospectively reviewed.
RESULTS: The majority of patients (60.5%) were young children below 3 years of age, with only six adult patients and a median age of 27.5 months. The left side was implicated in 157 cases (91.3%). In 146 cases (84.9%), a faint skin streak was noted above the orifice. Yet, no pharyngeal sinus tracts were detected, either through barium swallow studies or direct laryngoscopy. All skin lesions featured a diminutive orifice near the sternoclavicular joint, with the tract extending deeply into the subcutaneous tissue and terminating blindly, short of entering the joint, after a distance of 10 mm (ranging from 5 to 21 mm). Histopathological analysis revealed that the epithelial lining predominantly consisted of stratified squamous epithelium (87.8%), with ciliated columnar epithelium accounting for the remaining 12.2%.
CONCLUSIONS: CSCS, though infrequent, presents with distinctive pathological and clinical features. The condition predominantly affects the left sternoclavicular joint region, with the notable \"skin streak sign\" aiding in diagnosis. We considered CSCS as one disease entity of branchial arch anomalies. Complete surgical excision offers a definitive cure.
METHODS: 4 Laryngoscope, 2024.

Obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) syndrome presents with complex diagnostic and therapeutic challenges and is characterized by uterine didelphys, obstructed hemivagina, and ipsilateral renal anomaly. A 14-year-old female with a history of anorectal malformation and urogenital sinus anomaly presented with menstrual blood in her urine, abdominal pain, and distension. Investigations revealed a bicornuate uterus, vesicovaginal fistula, and right ovarian cyst, leading to the diagnosis of OHVIRA syndrome. A multidisciplinary approach resulted in salpingo-oophorectomy and subtotal hysterectomy. This case highlights the diagnostic challenges and emphasizes the role of advanced imaging and a multidisciplinary team in managing such complex conditions. It stresses the importance of patient-centered surgical planning tailored to the individual\'s anatomy and reproductive goals. Early recognition and a tailored, multidisciplinary approach are crucial in managing OHVIRA syndrome and improving outcomes for patients with rare congenital anomalies.

Gallbladder agenesis is a rare condition in pediatrics that is usually asymptomatic and represents a diagnostic challenge for physicians seeing these cases for the first time. Some patients may, however, present with symptoms that mimic other diseases of the bile ducts, and many of them undergo surgery due to such suspicion. Still, a timely diagnosis of gallbladder agenesis allows for medical treatment that is often sufficient to resolve the patient\'s problem. Although it is a benign condition, patients often present with other associated, more serious malformations and should be actively studied for a timely referral to other specialists. Here we describe our experience with the diagnosis and treatment of these patients and a brief review of the bibliography. We hope it will be helpful for physicians facing similar cases.
La agenesia de la vesícula biliar es una entidad rara en pediatría con una evolución normalmente silente, y representa un desafío diagnóstico para el médico que enfrenta estos casos por primera vez. Algunos pacientes pueden, sin embargo, presentar síntomas que simulan otras patologías del árbol biliar, y muchos de ellos son operados ante esta sospecha. Sin embargo, el diagnóstico oportuno de esta entidad permite llevar a cabo un tratamiento médico que muchas veces es suficiente para resolver el problema del paciente. Si bien es una condición benigna, los pacientes suelen presentar otras malformaciones asociadas que son más graves en naturaleza y que deben investigarse activamente para poder derivarlos a los especialistas de manera oportuna. Presentamos nuestra experiencia en el diagnóstico y tratamiento de estos pacientes, así como una breve revisión de la literatura. Esperamos que sea de utilidad para el médico que encuentre un caso similar.

Laryngeal atresia is a rare congenital condition that presents with hypoxia and failed intubation attempts at birth. When diagnosed prenatally, options exist to obtain airway access during delivery. However, postnatal diagnosis requires a high degree of clinical suspicion and the prompt initiation of surgical airway management in order to avoid morbidity and mortality.

BACKGROUND: Birth defects (BDs) are the major causes of infant morbidity and mortality in both developed and developing countries. Regardless of their clinical importance, few studies on predisposing factors have been conducted in Ethiopia. However, due to a lack of advanced diagnostic materials, we only considered the externally visible BDs.
OBJECTIVE: To assess the determinants of externally visible birth defects among perinatal deaths at Adama Comprehensive Specialized Hospital.
METHODS: A retrospective unmatched case-control study design was conducted from November 01 to 30, 2021. The sample size was determined by Epi Info version 7 software considering sample size calculation for an unmatched case-control study. A total of 315 participants (63 cases, and 252 controls) were selected by simple random sampling. Data were collected by an open data kit (ODK) and transported to a statical package for social sciences (SPSS) version 26 software for analysis. The bivariate followed by multivariable logistic regression analyses were done to determine the factors associated with the BD.
RESULTS: This study showed that drinking alcohol during pregnancy (AOR = 6.575; 95% CI: 3.102,13.937), lack of antenatal care (ANC) follow-up during pregnancy (AOR = 2.794; 95% CI: 1.333, 5.859), having a history of stillbirth in a previous pregnancy (AOR = 3.967; 95% CI: 1.772, 8.881), exposure to pesticides during pregnancy (AOR = 4.840; 95% CI: 1.375, 17.034), having a history of BDs in a previous pregnancy (AOR = 4.853; 95% CI: 1.492, 15.788), and lack of folic acid supplementation during early pregnancy (AOR = 4.324; 95% CI: 2.062, 9.067) were significant determinants of externally visible BDs among perinatal deaths.
CONCLUSIONS: In this study, alcohol use, exposure to pesticides, and lack of folic acid supplementation during pregnancy were identified as the major determinants of externally visible BDs among perinatal deaths. Thus, health education regarding the associated factors of BDs and their preventive strategies should be given to pregnant mothers.

Congenital abnormalities in the development of the thyroglossal duct are a common pathology in the pediatric population. The exact frequency of hemiagenesis of the thyroid gland is not known because the condition is rarely manifested clinically and is almost always discovered incidentally. Papillary carcinoma of thyroglossal cysts is relatively uncommon, has a good prognosis if promptly detected and treated and occurs mainly in adults. The case we present here is an extremely rare occurrence: a patient with papillary thyroid carcinoma of the thyroglossal duct cyst and thyroglossal duct cyst carcinoma (TDCa). So far, only two such adult patients (women aged 24 and 35) have been described in the world medical literature. The patient we present is a 14-year-old female and is the first described adolescent with papillary carcinoma of the thyroglossal duct cyst and thyroid hemiagenesis (THA). The disease didn\'t have any clinical manifestations, and the patient was brought in by her parents to improve her aesthetic appearance. Neither the physical examination nor the radiological evaluation showed any signs of malignancy. The diagnosis was reached by our team only after the patoanatomical examination. In this patient\'s case, due to its early diagnosis, the spread of the disease was limited only to the borders of the thyroglossal duct cyst and the absence of regional and distant metastasis. Surgical removal led to a complete cure, without any postoperative data suggestive of residual disease. The functions of the thyroid gland in her case were not affected, despite her left-lobe agenesis, to which there are multiple proofs, namely the normal blood concentration of the examined thyroid markers: free triiodothyronine (FT3), free thyroxine (FT4), thyroglobulin (TG), thyroid stimulating hormone (TSH), anti-TG (thyroid antibody test (TAT)), anti-thyroid peroxidase (TPO) (microsomal antibody test (MAT)), and normal physical and psychological development.