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BACKGROUND: Caudal regression syndrome (CRS), also known as caudal agenesis, results from abnormal development of the caudal aspect of the spinal cord and vertebral column due to an earlier abnormality of gastrulation.
RESULTS: This report showcases a unique scenario where three siblings, devoid of any prior family history or identifiable risk factors, exhibit symptoms of CRS and receive care at a government-run tertiary facility dedicated to children\'s health. In establishing a concrete diagnosis, we relied on skeletal surveys, comprehensive symptom evaluation, and medical history assessment. Additionally, we recommended further investigation through magnetic resonance imaging and genetic testing to attain a more in-depth understanding and confirmation of the condition. Unfortunately, the financial constraints faced by the parents led to the unfeasibility of pursuing these advanced diagnostic options. Given the rarity of this syndrome and the limited existing literature, our report is a significant contribution. It marks the first comprehensive exploration of CRS from the genetic and familial predisposition perspective, shedding new light on this rare condition.
CONCLUSIONS: This case series pioneers our understanding of the familial and genetic connections between CRS and sacral agenesis. Strikingly, each subsequent generation has experienced more severe manifestations earlier, furnishing compelling evidence that underpins the genetic predisposition to CRS.

Background: Caudal regression syndrome (CRS) is a rare congenital malformation characterized by incomplete development of the lower spine and spinal cord. Its estimated incidence ranges from 1 to 2 per 100,000 live births, leading to a spectrum of clinical presentations. Although most cases are diagnosed during childhood, only a small number of cases have been documented in adults in the medical literature. Case Report: A 27-year-old woman underwent an outpatient magnetic resonance imaging (MRI) of the thoracolumbar spine due to severe lower back pain experienced for the first time. Despite congenital leg abnormalities and multiple childhood surgeries, no further investigations were conducted at that time. MRI revealed congenital anomalies consistent with CRS, including coccygeal agenesis, L5 sacralization, and spinal cord defects. The patient also had a long-standing pilonidal cyst treated conservatively, now requiring operative treatment due to an abscess. Conclusions: This report underscores a rare case of CRS initially misdiagnosed and mistreated over many years. It emphasizes the importance of considering less common diagnoses, especially when initial investigations yield inconclusive results. This clinical case demonstrates a highly valuable and educative radiological finding. In the literature, such cases with radiological findings in adults are still lacking.

Developments in preconception and prenatal technologies have led to undeniable advances in how health-care providers screen and treat patients. Despite these advances, at any point errors can occur leading to misdiagnosis or a missed diagnosis. In some instances, the missed information can lead to the birth of a child with health issues where short of the error, the decision to avoid conception or terminate the pregnancy might have been made. When these lapses unfold, there exists the potential for a wrongful birth or wrongful life lawsuit to ensue. While these 2 actions are based on the same set of events, they are distinct legal claims with varying degrees of judicial permissibility. Global legal acceptability of wrongful birth and life lawsuits tends to resemble patterns in the United States. Analyzing prior wrongful birth and wrongful life claims can reveal common trends in events leading to these types of lawsuits, as well as an understanding of their potential outcomes. A familiarity with wrongful birth and wrongful life lawsuits demonstrates how these cases are unique from other forms of prenatal or birth injury tort lawsuits and can provide insights to common shortcomings in clinical practice. Applying these lessons to clinical practice highlights key approaches towards limiting the risk of certain errors leading to wrongful birth and wrongful life lawsuits, with the goal of health-care providers offering high quality health care.

Caudal regression syndrome is a form of segmental spinal dysgenesis involving the caudal spinal column, ranging from segmental coccygeal agenesis to extensive thoracolumbar agenesis with varying degrees of spinal cord dysgenesis. A majority of caudal regression cases are sporadic but maternal pre-gestational diabetes mellitus is an important risk factor. Imaging is an integral part of management of caudal regression syndrome. Antenatal diagnosis on obstetric ultrasound and evaluation with fetal MRI is ideal. Early postnatal diagnosis and/or detailed evaluation with MRI is essential for early management to improve outcomes. Pang classification categorizes caudal regression syndrome into two categories based on the position of the conus while Renshaw classification is based on the degree of vertebral column agenesis. Caudal regression syndrome may be associated with several additional anomalies, both spinal and extraspinal. A number of genitourinary and gastrointestinal anomalies have been described in association with caudal regression syndrome. The field of view of MRI of the lumbosacral spine in caudal regression syndrome needs to be extended to visualize the retroperitoneal structures without the use of a saturation band. Syndromic associations may be suspected, and additional imaging performed, based on findings of extended field of view MRI of the spine. Associated sacral masses and filar abnormalities need to be identified and may also require surgical treatment. The multisystem nature of this disease necessitates a multimodality approach to the evaluation and management of caudal regression syndrome with close cooperation between pediatric neuroradiologists and body radiologists as well as multiple clinical teams. Appropriate early management with surgical correction as necessary can significantly improve prognosis and survival in caudal regression syndrome.

BACKGROUND: Sacral agenesis (SA) includes a range of clinical presentations of varying severity, with implications for function and quality of life (QoL). Diagnosis is often made perinatally, and prognostic discussions become an important aspect of parental counselling. This study engaged SA sufferers and their caregivers to obtain objective, long-term patient reported outcome data.
METHODS: Patients with radiologically confirmed SA from a single tertiary spinal unit underwent retrospective medical record review. Patients were then contacted by telephone to complete QoL questionnaires including EQ-ED-5L for adults and EQ-ED-Y for < 16-year-olds. Additional information including Renshaw grade, employment, living situation and bladder function was also collected.
RESULTS: Twenty-six patients with SA were identified. Mean age is 23.35 years (range 0.92-63.53), 13 M:17F. Renshaw grade ranged from 1 to 4. Sixty-eight percent had associated kyphoscoliotic deformities. The majority (70%) had either impaired or absent bladder control, and 80% need walking aids to mobilise. Twenty patients completed the questionnaire (10 adults and 10 < 16-year-olds). Mean EQ-ED-5L index for adults was +0.474 (range -0.1 to +0.089, 1 = best), with a lower mean value of +0.287 (range -0.54 to +1) for the < 16-year cohort. Those undergoing spinal fusion procedures had significantly lower scores (-0.08 v +0.44, p = 0.022).
CONCLUSIONS: This study provides an objective record of the QoL of individuals with SA, illustrating a wide variety of outcomes, with differences between younger and older individuals which may reflect the results of a long-term adaptive process. The implications for individuals should be carefully tailored to the specific deformity and the likely underlying neurological deficits.

Spinal dysraphism (SD) is a collective term for congenital malformations of the spine and spinal cord. It includes a wide range of congenital anomalies resulting from aberrations in the stages of gastrulation, primary neurulation and secondary neurulation. Spinal dysraphism may lead to neurological impairment of varying severity including weakness of the extremities, incontinence of bowel and bladder, sexual dysfunction, among others. Diagnosis of SDs is quite challenging because of its wide spectrum and complex cascade of embryologic events. Knowledge of normal embryology and proper understanding of imaging features of SD are important for early accurate diagnosis.
UNASSIGNED: This series of five cases describes the imaging spectrum of spinal dysraphism and highlights the embryological basis for their development, which could facilitate early correct diagnosis, surgical planning and reduced morbidity related to these malformations. It also includes an extremely rare case of complex spinal dysraphism (Type II diastematomyelia with right hemimyelomeningocoele and left hemilipomyelomeningocoele) with Chiari II malformation.

Sirenomelia is a rare lethal multi-systemic birth malformation in which the two lower limbs are replaced with a rotated single midline tail-like limb. Several hypotheses try to explain this syndrome, with the most prominent theories being the \"vascular steal hypothesis\" and the \"defective blastogenesis hypothesis.\" We report a case of a baby with sirenomelia who had a single femur and a single tibia, which classify the case as type VI on Stocker and Heifetz classification. The only risk factor in our case is young maternal age. The baby had a single umbilical artery, a prominent feature of the vascular steal hypothesis. Nonetheless, it also had upper limb deformity, which can be better explained by the defective blastogenesis hypothesis. Our case supports the defective blastogenesis theory of sirenomelia more than the vascular steal hypothesis as it has both a single umbilical artery and upper limb deformity. Also, our case serves as a teaching lesson that indicates the importance of an obstetric ultrasound before a cesarean section has to be done to avoid unnecessary surgery for life incompatible congenital anomaly.

Sirenomelia is a very rare congenital anomaly and is the most severe form of fetal caudal agenesis, characterised by partial or total fusion of the lower limbs, generally associated with severe abnormalities of the urinary and digestive systems, including disappearance of the kidneys, which can be fatal. Our aim was to diagnose this malformation as early as possible in pregnancy, in order to distinguish it from caudal regression syndrome, and to monitor the obstetric complications associated with this pathology. Given that the patient decided to carry the pregnancy to term, we succeeded in monitoring the complications of this malformative pathology.
METHODS: We present a case of sirenomelia diagnosed in the first trimester at 29 weeks\' amenorrhoea and a quarter days, in a patient with no particular pathological, toxic or psychological history, no consanguinity and in whom the clinical examination noted no particular physical or biological abnormality.
UNASSIGNED: We discuss the criteria for ultrasound diagnosis, common malformative associations and the importance of studying umbilical vascularisation using colour Doppler.
CONCLUSIONS: Sirenomelia is a very rare congenital anomaly and is the most severe form of fetal caudal agenesis incompatible with extrauterine life. Sirenomelia should be diagnosed at the second trimester ultrasound at the latest.

Sirenomelia is a rare congenital disorder that was once thought to be a severe case of caudal regression but is now thought to be entirely separate. It is often referred to as the \"mermaid syndrome\" because it causes the lower limbs to atrophy to varying degrees, giving the impression of a mermaid\'s tail or fin. The syndrome is often viewed as fatal due to the accompanying visceral deformities. Our case was a live born, delivered at term by caesarean section, to a 30-year-old third gravida having twin pregnancy. Examination of the baby revealed caudal dysgenesis with fusion of lower limbs, non-identifiable external genitalia and anus. The infant survived for 11 hours after birth. We report this case due to their rarity and term live birth. While sirenomelia is uncommon, the absence of distinct lower limbs on ultrasonography in the presence of oligo or anhydramnios may prompt consideration of the diagnosis of sirenomelia.