OBJECTIVE: To explore the clinical features, genetic characteristics in a child with Miller-McKusick-Malvaux syndrome (3MS) type 1 caused by CUL7 gene variant. METHODS: A child diagnosed with 3MS type 1 at the Children's Hospital Affiliated to Zhengzhou University in February 2021 was selected as the subject of this study. Peripheral blood samples were collected from the child and her parents for genomic DNA extraction. Whole exome sequencing (WES) was performed on the child, and Sanger sequencing was used to validate the candidate variants and analyze their pathogenicity. A literature search was conducted using the keywords "3M syndrome" in the China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, and PubMed databases from inception to December 2024. The clinical data of Chinese children with 3MS reported in the literature were summarized. This study was approved by the Medical Ethics Committee of the Children's Hospital Affiliated to Zhengzhou University (Ethics No. 2024-K-020). RESULTS: The child was a 6-year-old and 2-month-old female with facial dysmorphism, skeletal abnormalities, and growth and developmental delay. WES revealed compound heterozygous variants in the CUL7 gene: c.2686G>T (p.E896*) and c.1200delT (p.R401Gfs66). Sanger sequencing confirmed that these two variants were inherited from the child's father and mother, respectively. According to the American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines for the Interpretation of Sequence Variants, c.2686G>T (p.E896) was classified as a pathogenic (PVS1+PM2_Supporting+PM3), and c.1200delT (p.R401Gfs*66) was classified as a likely pathogenic (PVS1+PM2_Supporting). Based on the literature search strategy, 18 relevant articles were identified, including a total of 32 Chinese cases of 3MS, of which 8 were fetuses. A total of 32 Chinese 3MS cases were included in the literature review, of which 8 were fetuses. The majority of these cases carried variants in the CUL7 gene (20/32, 62.5%) and OBSL1 gene (12/32, 37.5%). The main clinical manifestations included intrauterine or postnatal growth and developmental delay (32/32, 100.0%), triangular facies (27/32, 84.3%), and skeletal abnormalities (21/32, 65.6%). CONCLUSION The compound heterozygous variants c.2686G>T (p.E896*) and c.1200delT (p.R401Gfs*66) in the CUL7 gene are likely the genetic cause of 3MS type 1 in the child. For children presenting with facial dysmorphism, skeletal abnormalities, and intrauterine or postnatal growth and developmental delay, 3MS should be considered as a differential diagnosis.
Humans ; Cullin Proteins/genetics* ; Female ; Child ; Limb Deformities, Congenital/genetics* ; Exome Sequencing ; Mutation ; Child, Preschool ; Dwarfism ; Muscle Hypotonia ; Spine/abnormalities*

OBJECTIVE: To analyze the clinical features and molecular genetic etiology of a patient with 3-M (Miller McKusick Malvaux) syndrome from a consanguineous parentage family, and to explore the relationship between genotype and phenotype. METHODS: After the consent of the proband's guardian and the informed consent form was signed, DNA was extracted from peripheral blood samples of the proband and her parents for chromosome microarray analysis, medical exome sequencing and parental verification. RESULTS: A total of 247.1 Mb loss of heterozygosity was found in the proband with a CytoScan 750K array. Furthermore, a homozygous variant (c.458dupG) of the OBSL1 gene was found using high-throughput sequencing, which was inherited from her parents. Based on the criteria and guidelines of genetic variation of American College of Medical Genetics and Genomics, the variant is predicted to be pathogenic (PVS1+PM2+PP4), and only one case was reported previously. CONCLUSION Spina bifida occulta and lower eyelid fat pad may be a special phenotype of c.458dupG variant of the OBSL1 gene. Our study may provide a useful reference for evaluating the relationship between genotype and phenotype of 3-M syndrome type 2.
Cytoskeletal Proteins ; Dwarfism ; Female ; Genomics ; Humans ; Molecular Biology ; Muscle Hypotonia ; Mutation ; Pedigree ; Spine/abnormalities* ; Whole Exome Sequencing

We report 13 children fulfilling criteria of Alagille syndrome. All had chronic cholestasis secondary to paucity of intrahepatic bile ducts and triangular facies. Eight children had associated congenital heart disease (six pulmonic stenosis, one each tetralogy of Fallot and patent ductus arteriosus), seven with butterfly vertebrae and one with posterior embryotoxon. Seven of the 13 children are alive and jaundice-free but three with concomitant hypercholesterolemia; the six other children died of liver-related complications.
Butterflies ; Bile Ducts, Intrahepatic ; Jaundice ; Musculoskeletal Abnormalities ; Spine

Tuberculous spondylitis, also known as Pott's disease, is a disease involving the spine with progressive destruction. It most commonly involves the thoracic and lumbosacral spine and may result in severe deformity or neurologic deficit. Although cervical spine involvement is rare, it can cause life threatening event. Recently, 70-year-old man presented with progressive dyspnea and dysphagia. Physical examination and radiologic studies showed a huge retropharyngeal abscess with bony erosion and sclerotic change at the adjacent cervical spine. After incision and drainage, it was finally confirmed as a tuberculous abscess. Herein, we report our experience with literature review.
Abscess ; Aged ; Congenital Abnormalities ; Deglutition Disorders ; Drainage ; Dyspnea ; Humans ; Neurologic Manifestations ; Physical Examination ; Retropharyngeal Abscess ; Spine ; Spondylitis ; Tuberculosis ; Tuberculosis, Spinal

STUDY DESIGN: Retrospective single institutional observational study. PURPOSE: Segmental spinal dysgenesis (SSD), a complex spinal dysraphic state caused by notochord malformation disorders, is named after its morphological presentation where a spine segment is dysgenetic, malformed or absent. This study’s objective was to examine and reassess SSD imaging findings and correlate them with an embryological explanation. OVERVIEW OF LITERATURE: Scott and his colleagues defined SSD as segmental agenesis or dysgenesis of the lumbar or thoracolumbar vertebrae and underlying spinal cord. Tortori-Donati and his colleagues defined it as a morphologic continuum ranging from hypoplasia to an absent spinal cord segment. METHODS: Fifteen children, whose imaging findings and clinical features were consistent with SSD, were included in the study. Magnetic resonance imaging (MRI) was performed per institutional spine protocol. RESULTS: Five children (33.3%) presented with a high-ending bulbous cord with no caudal segment, six (40%) presented with a dorsal or lumbar segmental dysgenetic cord with a low-lying, bulky caudal cord but without significant spinal canal narrowing, and four (26.6%) presented with segmental caudal dysgenesis with severe kyphoscoliosis, gibbus deformity, and spinal canal narrowing with a normal distal segment (normal or low-lying). CONCLUSIONS: SSD is a complex spinal anomaly in children requiring clinical-radiological assessment followed by multidisciplinary management based on the extent and severity of the dysgenetic cord and the type of SSD. MRI plays a crucial role in both diagnosing and classifying SSD prior to surgical treatment to prevent further impairment.
Child ; Congenital Abnormalities ; Humans ; Magnetic Resonance Imaging ; Notochord ; Observational Study ; Retrospective Studies ; Scoliosis ; Silver Sulfadiazine ; Spinal Canal ; Spinal Cord ; Spine

STUDY DESIGN: A retrospective study. PURPOSE: To investigate the incidence of iliac screw loosening with a two-rod vs. multi-rod construct and the effect on clinical and radiographic outcomes after surgery for adult spinal deformity (ASD). OVERVIEW OF LITERATURE: Multi-rod construct is useful for preventing rod fracture in ASD surgery. However, limited information is available regarding the incidence of iliac screw loosening after corrective fusion surgery using a multi-rod construct. METHODS: Total 106 patients with ASD (24 men and 82 women; mean age, 68 years) who underwent corrective fusion surgery using bilateral iliac screws and were followed up for at least 1 year were reviewed. The following variables were compared between patients who underwent surgery with a two-rod and multi-rod construct: age, sex, bone mineral density (BMD), fusion level, high-grade osteotomy, L5/S interbody fusion, screw loosening (upper instrumented vertebra [UIV], S1, and iliac), rod fracture, proximal junctional kyphosis, spinopelvic parameters, and Oswestry Disability Index (ODI) score. We also compared patients with and without iliac screw loosening in the multi-rod construct group. RESULTS: Of the 106 patients, 55 underwent surgery with a conventional two-rod construct and 51 with a multi-rod construct (three rods in 16, four rods in 35). Iliac and UIV screw loosening was observed in 24 patients (21%) and 35 patients (33%), respectively. The multi-rod group showed significantly higher incidence of iliac and UIV screw loosening and lower incidence of rod fracture. Patients with iliac screw loosening had a lower BMD than those without screw loosening; however, no significant differences were observed in the spinopelvic parameters or the ODI score. CONCLUSIONS: The use of multi-rod constructs led to a higher incidence of junctional screw loosening than the use of conventional two-rod constructs, especially in patients with osteoporosis. Iliac screw loosening did not affect sagittal alignment or clinical outcome in the short term.
Adult ; Bone Density ; Congenital Abnormalities ; Female ; Humans ; Incidence ; Kyphosis ; Male ; Osteoporosis ; Osteotomy ; Retrospective Studies ; Spine

STUDY DESIGN: Randomized controlled single-blinded clinical trial. PURPOSE: To evaluate the efficacy of Schroth therapy on thoracic curve angle, pain, and self-perceived body image (SPBI) of the back in Scheuermann's patients in comparison with the efficacy of classic anti-gravitation exercises. OVERVIEW OF LITERATURE: Scheuermann disease is the most common cause of hyperkyphosis of the thoracic and thoracolumbar spine during adolescence. However, very few studies evaluated the effect of exercises on the progression of kyphosis in Scheuermann patients. Schroth three-dimensional exercise therapy was found in several studies to be effective in the treatment of adolescent scoliosis; however, we found no randomized controlled trials that evaluated the efficacy of this method in Scheuermann patients. METHODS: A total of 50 young adults (males and females) with Scheuermann's disease were randomly divided into either the experimental group (Schroth therapy treatment, n=25) or the control group (classic anti-gravitation exercises, n=25). Participants in both the groups were provided a course of individual treatment sessions during few weeks, with one appointment per week. They were required to perform the exercises daily throughout the study period (12 months) and fill their performance in a research log. We evaluated the thoracic Cobb angle (main outcome measure), pain, SPBI, flexion of the shoulder (supine), flexion of the shoulder (standing), kyphotic deformity measured using inclinometer, and L5 kyphosis apex line (L5-KAL) as well as administered the Scoliosis Research Society-22 Questionnaire for the participants before the treatment, after 6 months, and 1 year postoperatively. These results were then compared. RESULTS: In the mixed analysis of variance, the main effect of time was significant in the thoracic kyphosis (F [1]=5.72, p=0.02), and in the L5-KAL (F [1]=5.76, p=0.02). The main effect of time on the kyphotic deformity, measured using an inclinometer, did not reach the significance level; however, it showed the tendency (F [1]=2.80, p=0.07). In the group-by-time interaction, a significant difference was found in the thoracic kyphosis (F [1]=4.91, p=0.03) and in the kyphotic deformity, measured using an inclinometer (F [1]=4.05, p=0.02). Thus, the Schroth therapy group showed significantly greater improvement than the classic anti-gravitation exercises group. CONCLUSIONS: The present findings indicate that back exercises in general, and Schroth therapy in particular, is an effective treatment for preventing and significantly improving the thoracic Cobb angle and symptomatic representation in Scheuermann's patients.
Adolescent ; Body Image ; Congenital Abnormalities ; Exercise ; Exercise Therapy ; Humans ; Kyphosis ; Methods ; Physical Therapy Modalities ; Posture ; Quality of Life ; Randomized Controlled Trials as Topic ; Scheuermann Disease ; Scoliosis ; Shoulder ; Spine ; Young Adult

STUDY DESIGN: Observational retrospective computed tomography (CT) based study. PURPOSE: To analyze the congenital anomalies of the cervical spine, their morphological variations and their clinical significance. OVERVIEW OF LITERATURE: Studies published to date have focused mainly on upper cervical anomalies; no study has comprehensively reported on anomalies of both the occipitocervical and subaxial cervical spine. METHODS: Nine hundred and thirty cervical spine CT scans performed in Ganga Hospital, Coimbatore, India between January 2014 and November 2017 were screened by two independent observers to document anomalies of both the upper and lower cervical spine. CT scans conducted for infection, tumor, and/or deformity were excluded. Different morphological variations, embryological basis, and clinical significance of the anomalies were discussed. RESULTS: Of the 930 CT scans screened, 308 (33.1%) had congenital anomaly. Of these, 184 (59.7%) were males and 124 (40.2.7%) were females, with a mean age of 44.2 years (range, 14–78 years). A total of 377 anomalies were identified, with 69 cases (7.4%) having more than one anomaly. Two hundred and fifty (26.8%) anomalies of the upper cervical region (occiput to C2–C3 disk space) were identified, with the most common upper cervical anomalies being high-riding vertebral artery (108 cases, 11.6%) and ponticulus posticus (PP) (75 cases, 8%). One hundred and twenty seven (13.6%) anomalies of the lower cervical spine (C3–C7) were noted, of which double foramen transversarium was the most common anomaly observed in 46 cases (4.8%). CONCLUSIONS: We found that 33.1% of CT scans had at least one congenital anomaly. Some anomalies, such as abnormal facet complex and arch anomalies, have to be differentiated from fractures in a trauma patient. Other anomalies, like PP, have to be looked for during preoperative planning to avoid complications during surgery. Therefore, knowledge of these anomalies is important as different anomalies have different clinical courses and management.
Congenital Abnormalities ; Female ; Humans ; India ; Male ; Retrospective Studies ; Spine ; Tomography, X-Ray Computed ; Vertebral Artery

Globally, the elderly population is increasing rapidly, which means that the number of deformity correction operations for elderly spine deformity patient has increased. On the other hand, for aged patients with deformity correction operation, preoperative considerations to reduce the complications and predict a good clinical outcome are not completely understood. First, medical comorbidity needs to be evaluated preoperatively with the Cumulative Illness Rating Scale for Geriatrics or the Charlson Comorbidity Index scores. Medical comorbidities are associated with the postoperative complication rate. Managing these comorbidities preoperatively decreases the complications after a spine deformity correction operation. Second, bone densitometry need to be checked for osteoporosis. Many surgical techniques have been introduced to prevent the complications associated with posterior instrumentation for osteoporosis patients. The preoperative use of an osteogenesis inducing agent
Aged ; Comorbidity ; Compensation and Redress ; Congenital Abnormalities ; Densitometry ; Geriatrics ; Hand ; Humans ; Lower Extremity ; Osteogenesis ; Osteoporosis ; Pelvis ; Postoperative Complications ; Posture ; Spine ; Teriparatide

STUDY DESIGN: Retrospective study.PURPOSE: To evaluate the effect of bracing on spinopelvic rotation and psychosocial parameters in adolescents with idiopathic scoliosis (AIS).OVERVIEW OF LITERATURE: Complex three-dimensional deformity in AIS is proposed to influence the spinopelvic parameters and psychosocial condition in adolescents; however, few studies have quantitatively evaluated these parameters.METHODS: Thirty AIS who were prescribed a brace were included in the study. The patients’ standing postero-anterior and total spine radiographs were used to measure the primary curve Cobb angle, vertebral rotation, and pelvic rotation. Apical vertebral rotation (AVR), upper AVR, and lower AVR were measured using the Nash-Moe method. Pelvic rotation was determined using the left-to-right hemipelvic width ratio. The curve pattern was classified as per the Lenke classification system. In all, 14 patients had a type I curve, five had type II, six had type III, one had type IV, and four had type V curves. Brace compliance was subjectively evaluated by interviewing the patients and their parents. The health-related quality of life (HRQOL) and stress level of the recruited patients were assessed using the Brace Questionnaire and Bad Sobernheim Stress Questionnaire, respectively.RESULTS: The Cobb angle significantly decreased with at least 6 months of brace use. AVR correction changed significantly; however, no such results were observed for upper and lower AVR. Pelvic rotation and psychosocial parameters were not significantly affected by brace use. No statistically significant correlation was observed between brace compliance and curve correction.CONCLUSIONS: The Cobb angle and AVR are crucial measurements that help evaluate the treatment efficacy in AIS with small curves who undergo brace treatment. HRQOL and pelvic axial rotation are not influenced by the brace treatment.
Adolescent ; Braces ; Classification ; Compliance ; Congenital Abnormalities ; Humans ; Methods ; Parents ; Pelvis ; Quality of Life ; Retrospective Studies ; Scoliosis ; Spine ; Treatment Outcome