Sacral Dimple Research Articles

Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry

BackgroundPhelan-McDermid syndrome (PMS) is a rare neurodevelopmental disorder caused by 22q13 deletions that include the SHANK3 gene or pathogenic sequence variants in SHANK3. It is characterized by global developmental delay, intellectual disability, speech impairment, autism spectrum disorder, and hypotonia; other variable features include epilepsy, brain and renal malformations, and mild dysmorphic features. Here, we conducted genotype-phenotype correlation analyses using the PMS International Registry, a family-driven registry that compiles clinical data in the form of family-reported outcomes and family-sourced genetic test results.MethodsData from the registry were harmonized and integrated into the i2b2/tranSMART clinical and genomics data warehouse. We gathered information from 401 individuals with 22q13 deletions including SHANK3 (n = 350, ranging in size from 10 kb to 9.1 Mb) or pathogenic or likely pathogenic SHANK3 sequence variants (n = 51), and used regression models with deletion size as a potential predictor of clinical outcomes for 328 phenotypes.ResultsOur results showed that increased deletion size was significantly associated with delay in gross and fine motor acquisitions, a spectrum of conditions related to poor muscle tone, renal malformations, mild dysmorphic features (e.g., large fleshy hands, sacral dimple, dysplastic toenails, supernumerary teeth), lymphedema, congenital heart defects, and more frequent neuroimaging abnormalities and infections. These findings indicate that genes upstream of SHANK3 also contribute to some of the manifestations of PMS in individuals with larger deletions. We also showed that self-help skills, verbal ability and a range of psychiatric diagnoses (e.g., autism, ADHD, anxiety disorder) were more common among individuals with smaller deletions and SHANK3 variants.LimitationsSome participants were tested with targeted 22q microarrays rather than genome-wide arrays, and karyotypes were unavailable in many cases, thus precluding the analysis of the effect of other copy number variants or chromosomal rearrangements on the phenotype.ConclusionsThis is the largest reported case series of individuals with PMS. Overall, we demonstrate the feasibility of using data from a family-sourced registry to conduct genotype-phenotype analyses in rare genetic disorders. We replicate and strengthen previous findings, and reveal novel associations between larger 22q13 deletions and congenital heart defects, neuroimaging abnormalities and recurrent infections.

Meaning and Clinical Interest of Minor Malformations and Normal Variants in Neonatology.

Congenital malformations can be found in all organ systems of a newborn. Almost two-thirds of congenital malformations have an unknown cause. There are minor (mM) and major (MM) congenital malformations. Searching for minor malformations has its vital place in everyday neonatology practice. Minor malformations are defined as physical variants that have no medical consequences and are mostly located on the face and distal parts of the extremities and are easily noticed. Minor malformations occur in approximately 15% of newborns. Minor congenital malformations are of great importance because they can be an indicator of the existence of major congenital malformations and syndromes. In a one-year retrospective study that analyzed the occurrence of 38 minor malformations through the year 2023 at the University Clinical Hospital of Mostar, there was an incidence of 10.59% of minor malformations. The most frequently recorded minor malformation was deep a sacral dimple at 44.72%, then poorly modeled ears at 15.08%, and moderate rectal diastasis at 14.58%. Three or more minor congenital malformations indicate one or more major congenital malformations. Major congenital malformations are severe structural defects of tissues and organs that endanger life, create serious functional disturbances and hinder the development of the child. In our country, there is currently a recorded incidence of 8.04%. The search for minor malformations in the newborn period is of great importance to children and the whole family, and the search must not be neglected.

Magnitude, risk factors and immediate outcome of external congenital anomalies in neonates in government Cuddalore medical college and hospital: an observational study

Background: Despite the enormous incidence of congenital malformations in developing countries, there are presently few thorough data on these disorders because there are no birth defect registries. This study was conducted with objectives to determine the magnitude, risk factors and outcomes of external congenital anomalies in neonates born in government Cuddalore medical college and hospital. Methods: The present study is an observational study. All the neonates born during the study period were included in our study and risk factors and outcome of 201 babies born with external congenital anomalies were analyzed in detail. Results: The incidence of external congenital anomalies is 5.68% with 33% having major and 63% having minor anomalies. Among the major anomalies cleft lip and/or palate is the most common anomaly (5%) in our study. Overall sacral dimple is the most commonly observed external congenital anomaly (9.50%). Four-fifths of the newborns with external congenital anomalies were discharged. About 13% of the newborns with congenital anomalies expired. Conclusions: A comprehensive package that includes preventive services, diagnostic, surgical or medical intervention, financial assistance, counselling, and psychosocial support, as well as follow-up treatments like rehabilitation, is required in combating the incidence of congenital anomalies.

"An Innovative Intervention Approach for Chronic Pain Management in Pediatric Static Vertebral Disorders through Physical Therapy"

"Introduction: In this study, we aimed to assess the effectiveness of a novel physical therapy intervention in managing chronic pain associated with pediatric static vertebral disorders. Methods and materials: The investigation encompassed both clinical variables, such as pain perception measured by a visual analog scale (VAS), and morpho-functional variables related to developmental level and spinal status: weight (W, kg), height (H, cm), body mass index (BMI), scapular/shoulder asymmetry (SA, cm), thoracolumbar fold asymmetry (TFA, cm), sacral dimples asymmetry (SDA, cm), intergluteal cleft deviation (ICD, cm), scoliosis measurement (SM, cm), right lumbar lateral flexion (RLLF, cm), left lumbar lateral flexion (LLLF, cm), and Cobb angle. The study involved a cohort of 48 subjects, aged between 8 and 12 years, who were divided into experimental and control groups. The experimental group underwent a six-month physical therapy-based rehabilitation program, while the control group did not receive any intervention during this period. Both groups underwent clinical and morpho-functional evaluations before and after the intervention. The analysis, conducted through a two-way repeated measures ANOVA, intended to explore the interaction between group and time of assessment on each dependent variable. Results: The results revealed significant differences in several variables (VAS scores, SA, TFA, SDA, ICD, SM, RLLF, LLLF, and Cobb angle) between the experimental and control groups (p ≤ 0.02), suggesting a discernible impact of the intervention on physiological and functional parameters related to spinal deformities and chronic pain management. Discussion: The intervention applied to the experimental group produced significant changes in key variables relevant for clinical assessment and morpho-functional analysis, indicating its notable impact on physiological and functional parameters. Conclusions: This study underscores the significant effect of tailored physical therapy interventions in mitigating chronic pain and improving morpho-functional aspects in pediatric spinal deformities."

Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals

BackgroundThe first studies on patients with forkhead-box protein P1 (FOXP1) syndrome reported associated global neurodevelopmental delay, autism symptomatology, dysmorphic features and cardiac and urogenital malformations. The aim of this study...

Role of Magnetic Resonance Imaging in the Screening of Closed Spinal Dysraphism.

Closed spinal dysraphism (CSD) encompasses a heterogeneous group of spinal cord deformities, which can be accompanied by several types of skin stigmata. These skin stigmata may include inconspicuous features, such as sacral dimples and deformed gluteal clefts, but the association between such mild skin stigmata and CSD is uncertain. This study aimed to reevaluate the indication for magnetic resonance imaging (MRI) in patients with skin stigmata while considering the indication for surgery. A retrospective analysis was conducted on magnetic resonance images of 1255 asymptomatic children with skin stigmata between 2003 and 2015. Skin stigmata classification was based on medical chart data. All subtypes of CSDs except for filum terminale lipomas (FTL), FTL thicker than 2 mm or with low conus medullaris, were considered to meet the surgical indication. CSD prevalence was estimated while considering the surgical indications and assessed after excluding all FTL cases. Skin stigmata were classified into seven types, dimple, deformed gluteal cleft, hair, subcutaneous mass, appendage, discoloration, and protruding bone, and included 1056 isolated and 199 complex ones. The prevalence of CSD was 19.5%, 6.8%, and 0.5% among patients with isolated dimples (n = 881) and 13.9%, 5.8%, and 0.7% among those with isolated deformed gluteal clefts (n = 136) for all cases, surgical indications, and patients without FTL, respectively. Dimples and deformed gluteal clefts had a low prevalence of CSD requiring surgical intervention, and cases without FTL were rare. Asymptomatic patients with mild skin stigmata may not require immediate MRI.

Fibrous hamartoma of infancy of the spinal cord resembling conus and filum, with a coexisting sacral dimple.

Fibrous hamartoma of infancy (FHI) is a rare benign soft tissue lesion of infants and young children. It usually occurs within the first 2years of life at the superficial layer of the axilla, trunk, upper arm, and external genitalia. FHI in the central nervous system (CNS) is extremely rare. So far, only two spinal cord FHI cases have been reported. We present a case of a 1-month-old girl who presented with a skin dimple in the coccygeal area. Her MRI showed a substantial intramedullary mass in the thoracolumbar area with a sacral soft tissue mass and a track between the skin lesion to the coccygeal tip. Her normal neurological status halted immediate surgical resection. A skin lesion biopsy was first performed, revealing limited information with no malignant cells. A short-term follow-up was performed until the intramedullary mass had enlarged on the 5-month follow-up MRI. Based on the frozen biopsy result of benign to low-grade spindle cell mesenchymal tumor, subtotal resection of the mass was done, minimizing damage to the functioning neural tissue. Both the skin lesion and the intramedullary mass were diagnosed as FHI. Postoperative 5.5-year follow-up MRI revealed minimal size change of the residual mass. Despite being diagnosed with a neurogenic bladder, the patient maintained her ability to void spontaneously, managed infrequent UTIs, and continued toilet training, all while demonstrating good mobility and no motor weakness. This case is unique because the lesion resembled the secondary neurulation structures, such as the conus and the filum, along with a related congenital anomaly of the dimple.

Co-occurrence of subcutaneous myxopapillary ependymoma, dermal sinus tract, and filum terminale lipoma: a review of the pathobiology of caudal spinal cord development and spinal cord tethering. Illustrative case.

Myxopapillary ependymoma (MPE) is typically benign and found in the conus medullaris and/or filum terminale, although rare cases of subcutaneous and extra-axial MPE have been reported. The co-occurrence of MPE, tethered cord syndrome (TCS) with lipoma of the filum terminale, and a dermal sinus tract is extremely rare, with only 6 reported cases in the literature. Here, the authors present the first case, to their knowledge, of an extra-axial, subcutaneous MPE co-presenting with TCS, lipoma of the filum terminale, and a dermal sinus tract and discuss the underlying pathobiology. A 14-month-old male who presented for evaluation of a dermal sinus tract underwent magnetic resonance imaging, which revealed a tethered cord with associated lipoma. At 14 months, the patient underwent spinal cord detethering with resection of his sacral dimple and sinus tract. Histopathological evaluation revealed an incidentally found MPE within the dermal sinus tract. The authors review the underlying biology of MPEs, tethered cord syndrome, and dermal sinus tracts, and explore possible points of convergence within the developmental pathways that may result in this unique concomitant presentation. Additionally, they suggest that extra-axial MPE may be underappreciated and underdiagnosed; this case suggests that extra-axial MPE may be only effectively diagnosed with histological studies.

Diagnostic Utility of Spinal Ultrasounds in Neonates.

Ultrasound (US) is a common imaging modality used to evaluate spinal anomalies in newborns. However, many indications for the use of spinal US are associated with low diagnostic yield. The purpose of this study is to evaluate the indications and the diagnostic utility of spinal USs performed in newborns at our institution. We also review patient presentations for caudal regression syndrome (CRS) that was identified from the USs performed. This study is a retrospective review of spinal USs performed between January 1, 2006, and December 31, 2021, in newborns at a single institution. Indications for each US and any associated abnormalities were noted. Infants with abnormal USs showing CRS are described with their long-term medical outcomes. A total of 592 USs were performed during the specified time period of which 72 (12%) were abnormal. The presence of a sacral dimple was the most common indication for performing a spinal US, although only 14 (4%) were identified as abnormal. Of these 14, 6 (43%) were further evaluated by spinal magnetic resonance imaging (MRI) at the recommendations of a pediatric radiologist and of these, only 2 (14%) had abnormal MRI findings. The two newborns with abnormal MRI findings had mothers with diabetes mellitus in their pregnancies. Of note, one additional newborn had abnormalities on spinal US that was never confirmed on MRI due to being lost to follow-up. Among the other indications, anorectal anomalies (odds ratio [OR], 7.55; 95% confidence interval [CI], 3.01-18.91), spinal mass (OR, 17.99; 95% CI, 7.86-41.2), and meningocele were most associated with abnormal findings. Overall, spinal US has a low diagnostic yield. Sacral dimple was the most common indication for performing a spinal US but had a low yield with few long-term sequelae. Anorectal anomalies had a strong association with abnormal US findings. · Sacral dimple is a common indication for spinal ultrasound.. · Spinal ultrasound has low diagnostic yield when performed for sacral dimple.. · Caudal regression syndrome is associated with maternal diabetes and numerous long-term comorbidities..

Evaluation of sacral dimple association with urodynamic findings in children with recurrent urinary tract infection

Introduction: Urinary tract infections (UTIs) are among the most important diseases of children. UTI timely diagnosis and treatment is essential to prevent renal failure. Objectives: This study aims to investigate the association of sacral dimples with recurrent UTIs and urodynamic findings in a group of pediatric patients. Patients and Methods: This case-control study was conducted on children aged one month to fifteen years old with recurrent UTIs. The association of sacral dimples with recurrent UTIs and urodynamic findings were studied. Results: In total, 229 patients with recurrent UTIs were recruited. One hundred thirty-one patients were in the case group (with sacral dimple), and 98 patients were in the control group (without sacral dimple). One-hundred and nine children (82.2%) in the case group and 56 children (57.1%) in the control group had abnormal voiding cystourethrography (VCUG) (P<0.001). Forty patients in the case group and 29 patients (29.6%) in the control group had abnormal dimercaptosuccinic acid (DMSA) scan in the first study (P=0.568). Twenty-two patients (16.8%) in the case group and 13 patients (13.3%) in the control group had renal scarring (P=0.578). Urodynamic findings were abnormal in 117 children (89.3%) in the case group and 70 children (71.4%) in the control group (P=0.001, OR=3.34, 95% CI: 1.65-6.78). Conclusion: In this study, abnormal uroflowmetry and bladder compliance were significantly more common in children with recurrent UTIs with sacral dimple in comparison to recurrent UTIs in patients without sacral dimple. It is recommended that in cases of sacral dimples, patients should undergo a urodynamic study to detect bladder dysfunction.

378 Sacral Dimpling and GI/GU Symptoms in KBG Patients May Indicate Comorbid Tethered Cord Syndrome (TCS)

INTRODUCTION: KBG is an autosomal dominant disorder characterized by costovertebral bony anomalies, scoliosis, and intellectual disability, and neurological disability. Tethered Cord Syndrome (TCS) is tissue tethering of the spinal cord due to a persistent embryological filum terminale causing subsequent bladder and bowel incontinence, scoliosis, and neurological signs and symptoms in the lower extremities. Tethered cord syndrome in genetic constellations, given the congenital nature, warrants further epidemiological studies. METHODS: Beyond the Diagnosis (https://www.beyondthediagnosis.org/), a local nonprofit organization in Rhode Island distributed an optional survey to members of their Facebook page in August 2020. Patients themselves or a family member chose to complete the optional survey about current symptoms and provided their age, sex, and consent to the responses being used in further research. Responses were anonymized and analyzed in Excel. Symptom prevalences across the responses and correlations between specific symptoms were calculated to explore whether a subset of symptoms among the patient sample was comorbid. RESULTS: 83 KBG patients answered the survey (dTCS, n = 10, sTCS, n = 73, average age = 9.71). The most prevalent symptoms were sacral dimple (60%), severe constipation (60%), and poor coordination (50%) among dTCS patients, and sacral dimple (65.75%), gait changes/leg weakness (58.90%), and severe constipation (43.84%) among sTCS patients. Objective signs of TCS were combined into GI/GU, neurocutaneous, and orthopedic sign clusters. Pearson matrix analysis showed a correlation (R = 0.339) between GI/GU and orthopedic signs, especially between bladder/bowel changes and orthopedic signs (R = 0.468). CONCLUSION: Surveyed sTCS patients had a high prevalence of TCS symptoms such as sacral dimples and GI/GU issues. Upon symptom clustering, there was a notable correlation between bladder/bowel changes and orthopedic signs.

The AIUM Practice Parameter for the Performance of an Ultrasound Examination of the Neonatal and Infant Spine.

The AIUM Practice Parameter for the Performance of an Ultrasound Examination of the Neonatal and Infant Spine.

A novel COLEC10 mutation in a child with 3MC syndrome

3MC syndrome is an autosomal recessive disorder encompassing four rare disorders previously known as the Malpuech, Michels, Mingarelli and Carnevale syndromes. They are characterized by a variable spectrum of abnormalities, including facial dysmorphisms, along with genital, limb and vesico-renal anomalies. The syndrome was originally attributed to mutations in MASP1 and COLEC11, which code for proteins involved in the lectin complement pathway. More recently, mutations in COLEC10, a third gene coding for collectin CL-L1, were identified in a limited number of patients with 3MC syndrome. Here we describe a 4-years-old patient with typical 3MC phenotypic characteristics, including blepharophimosis, telecanthus, high arched eyebrows, fifth finger clinodactyly, sacral dimple and horseshoe kidney. Initial genetic analysis was based on clinical exome sequencing, where only MASP1 and COLEC11 genes are present, without evidence of pathogenic variants. Sanger sequencing of COLEC10 identified the homozygous frameshift variant c.807_810delCTGT; p.Cys270Serfs*33, which results in the loss of the natural stop codon. The resulting protein is 24 amino acids longer and lacks a conserved cysteine residue (Cys270), which could affect protein folding. Segregation studies confirmed that both parents were carriers for the variant: interestingly they originate from the same area of Apulia in southern Italy. Plasma levels of CL-L1 in the patient and her parents were within normal range, suggesting that this variant does not modify transcription or secretion. However, the variant affects the chemo-attractive feature of CL-L1, as HeLa cells migrate significantly less in response to the mutant protein compared to the wild-type one.

Lumbar Skin Lesion in a Term Infant.

Lumbar Skin Lesion in a Term Infant.

Lumbosacral Nevus Simplex in a Newborn Girl with an Asymmetrical Y-Shaped Gluteal Cleft

Lumbosacral Nevus Simplex in a Newborn Girl with an Asymmetrical Y-Shaped Gluteal Cleft

An Unusual Pigmented Plaque in a Newborn.

An Unusual Pigmented Plaque in a Newborn.

Surgical Correction of True Diphallia in a Newborn Male

Diphallia is an exceedingly rare anomaly characterized by partial or complete duplication of the phallus. Approximately 100 cases have been reported worldwide since its initial documentation, and incidence is estimated at 1 in 5 to 6 million live births. Therapeutic management is dependent on the extent of the anomaly, ranging from phallic excision to complex reconstructive procedures in cases of broader systemic involvement. We present the case of congenital true diphallia with associated penoscrotal transposition, bifid scrotum, partial urethral duplication, ventral chordee, large scrotal lipoma and sacral dimple. We further present a review of available literature pertaining to diphallia.

MO059COLEC10 AND 3MC SYNDROME: EXPANDING THE GENOTYPIC AND PHENOTYPIC SPECTRUM OF A VERY RARE DISEASE

Abstract Background and Aims 3MC syndrome is an autosomal recessive disorder encompassing a variable spectrum of abnormalities, among which facial dysmorphisms are characteristic. Mutations in genes which encode proteins involved in the lectin complement pathway MASP1, COLEC11 and recently COLEC10 have been identified in patients with 3MC syndrome, supporting their key role during human development. We present a 5 years old patient with typical 3MC phenotypic characteristics, including blepharophimosis, telecanthus, high arched eyebrows, fifth finger clinodactyly, horseshoe kidneys, diastasis recti, umbilical depression and sacral dimple. The diagnosis was confirmed by sequencing of COLEC10 gene and the putative pathogenic variant was functionally validated through in vitro assays. Method COLEC10 gene was analyzed through Sanger sequencing. The secreted protein CL-L1 was investigated in the plasma of the patient and her parents by Western blot. The variant was introduced by a site-specific mutagenesis approach into a plasmid encoding wild-type human CL-L1. HeLa cells were then transfected with the mutated or wild-type plasmid and culture supernatant evaluated in a migration assay. Results A homozygous frameshift variant c.807_810delCTGT p.(Cys270Serfs*33) was identified in the patient. Segregation studies confirmed the parents’ carrier status for the variant. Functionally, the variant affects the chemo-attractive feature of CL-L1, as HeLa cells are less sensitive to the mutant protein compared to the WT one, resulting in a reduced migratory response. Conclusion We report a patient affected by 3MC syndrome who, besides typical phenotypic signs, presents a patent ductus arteriosus, never described in association to COLEC10 before. The variant causative role was functionally confirmed in an in vitro assay, where the mutated protein failed to act as a chemo-attractant. We thus provide further evidence for CL-L1 role during embryonic development

22q13 Duplication in Newborn With Dysmorphic Features: The Role of SOX10 in Disorders of Sex Development

Background: The 46,XX testicular disorder of sex development (DSD), also known as 46,XX male reversal, is a rare form of DSD and clinical phenotype shows complete sex reversal from female to male. The sex-determining region Y (SRY) gene can be identified in most 46,XX testicular DSD patients; however, approximately 20% are SRY-negative. Here we present a 2 week old with discrepant prenatal karyotype and infant phenotype. Case: This 2-week-old had dysmorphic features (bitemporal narrowing, broad and flat nasal bridge, bilateral epicanthal folds) and multiple congenital anomalies; IUGR, hypertelorism, cleft lip and palate, ASD, small kidneys, sacral dimple. Physical exam revealed palpable inguinal masses and microphallus without hypospadias. Postnatal karyotype showed a 46,XX chromosome complement with duplication of 22q13-qter. He was negative for SRY gene by FISH. Microarray analysis confirmed the duplication encompassing the SOX10 gene. Lab evaluation showed LH 10.81 mIU/ml, FSH 3.21 mIU/ml and total testosterone 241 ng/dl. These values are consistent with activation of the hypothalamic–pituitary–gonadal axis during the neonatal period in males. Conclusion: Our case along with previous cases supports the existence of a gene on chromosome 22q that can trigger testis determination in the absence of SRY. Potential mechanisms responsible for ovotesticular disorder in the XX (SRY−) individual could involve activation of testis specifying genes in the absence of SRY and/or inadequate expression of pro-ovary/anti-testis genes such as SOX 8 and SOX9. SOX10, a gene closely related to SOX9 and SOX8, and its overexpression has been suggested as a candidate for 46,XX DSD. Over-expression of SOX10 in mice resulted in the XX DSD. The spectrum of sex reversal phenotypes and gonadal asymmetryseen in the Sox10 transgenic mice closely mirrors the range of gonadal and reproductive tract anomalies seen in cases of partial duplication of human chromosome 22q13. Although SRY-negative 46,XX testicular DSD is a rare condition, an effort to make an accurate diagnosis is important for the provision of proper genetic counseling and for guiding patients in their long-term management.

Risk of occult spinal dysraphism based on lumbosacral cutaneous manifestations.

Objectives:Occult spinal dysraphism is a congenital failure of fusion of the posterior vertebral arches with intact skin overlying the defect. Lumbosacral cutaneous manifestations are associated with a variable risk of occult spinal dysraphism. Tethered cord syndrome is a type of occult spinal dysraphism that puts abnormal traction on the spinal cord. This study analyzed neonates and infants who were referred to our pediatric urology practice and had evidence of lumbosacral cutaneous manifestation on physical examination.Methods:We reviewed the presence of lumbosacral cutaneous manifestations in neonates and infants evaluated in our pediatric urology clinic at our Institution over a 6-year period (1 March, 2015–28 February, 2021) with no prior diagnosis of lumbosacral cutaneous manifestation. All patients underwent a spinal ultrasound.Results:The most common lumbosacral cutaneous manifestations were bifurcated/duplicated gluteal folds (33%), gluteal asymmetry (19%), and sacral dimples (14%). A total of 34 (24%) patients had an abnormal spinal ultrasound; 15 (44%) of these infants underwent a lumbar magnetic resonance imaging. A coccygeal pit was statistically marginally higher in abnormal versus normal spinal ultrasound (p = 0.07). Patients with only one lumbosacral cutaneous manifestation (N = 121) were significantly more likely to have a normal spinal ultrasound compared to those with two or more lumbosacral cutaneous manifestation (N = 17) (79% vs 53%, p = 0.03).Conclusion:Due to the varying risk of certain lumbosacral cutaneous manifestations with occult spinal dysraphism, all patients with a lumbosacral cutaneous manifestation should undergo spinal ultrasound. This study also highlights the importance of urodynamic studies when there are abnormal cutaneous findings. Routine physical examinations of the lumbar region for cutaneous manifestations of occult spinal dysraphism are vital to ensure prompt management of tethered cord syndrome and avoid potentially devastating consequences.