Any spinal congenital anomaly may present in adulthood as a consequence of spinal cord tethering and/or development of syringomyelia. [uncch.pure.elsevier.com]

We hereby present a case of congenital malformed PAA with posterior midline fusion defect and secondary developmental canal stenosis at the level of atlas, presenting with cervical myelopathy. [jss.amegroups.com]

Patients may present with neck pain, torticollis, or headaches. Neural deficits may be present. Proprioceptive and sphincter disturbances are common findings. [boneandspine.com]

Congenital Brain and Spine Malformations: What You Need to Know Congenital means present at birth. These conditions may be mild and without symptoms or serious, requiring treatment. Surgery may be recommended to: Address your child’s symptoms. [hopkinsmedicine.org]

- diff dx: - juvenile rheumatoid arthritis; - rheumatoid spondylitis; - Clinical Presentation: -Often incidental finding -Anomalies present at birth -Diagnosed at later age -Presentation: Abnormal head position Torticollis Restricted Cervical ROM Patients [wheelessonline.com]

• Difficulty Walking

  Physical signs of congenital spine deformities include: Abnormal curvature or twisting in the back, to either side, forward, or backward Uneven shoulders, waistline, hips, or legs Tilted pelvis Difficulty walking Difficulty breathing How Are Congenital [childrensnational.org]

• Heart Disease

  […] postural congenital scoliosis ( Q67.5 ) kyphoscoliotic heart disease ( I27.1 ) postprocedural scoliosis ( M96.- ) Curvature spine (acquired) (angular) (idiopathic) (incorrect) (postural) - see Dorsopathy, deforming congenital Q67.5 Deformity Q89.9 ICD [icd10data.com]

• Muscle Weakness

  Muscle weakness, atrophy or even paralysis of the thigh and calf muscles is seen. Urinary incontinence and poor bowel control develop. Skin ulcerations on the feet are common. Unilateral calf atrophy or club foot should be a strong indicator. [quizlet.com]

  They may also suffer from muscle weakness and/or atrophy, and neurological sensory loss. This defect is caused by genetic and environmental influences that occur during somitogenesis around the third week after fertilization. [embryo.asu.edu]

  Pyramidal tract signs and symptoms (spasticity, hyperreflexia, muscle weakness and wasting, and gait disturbances) are most common, but cranial nerve involvement (diplopia, tinnitus, dysphagia, and auditory disturbances) may be seen less often. [clinicalgate.com]

  Neurologic involvement includes lower extremity muscle weakness and altered sensation[ 58 ]. Equinovarus, lower extremity contractures, kyphoscoliosis and hypoplastic pelvis with hip instability are common orthopedic manifestations of this condition. [wjgnet.com]

• Hypertrichosis

  Hypertrichosis is often accompanied by a capillary hemangioma and also may be associated with dimples or subcutaneous masses, such as lipoma, bone malformations, or even teratoma. [pediatrics.aappublications.org]

  A striking finding is the hairy patch (hypertrichosis), also known as “faun’s tail,” which always occurs in the midline. It may be small but more commonly is a wide, diamond-shaped patch in the lumbar or lower thoracic area ( Fig. 31–6 ). [musculoskeletalkey.com]

  Cutaneous lesions, especially a patch of hypertrichosis, are often found over the affected area of the spine and the neurologic symptoms include motor or sensory deficits, scoliosis, incontinence and pain. [wjgnet.com]

  Indeed, the association of foot deformities with lumbar or lumbosacral hypertrichosis may be the origin of the mythological figure of the satyr. 106.  Spina bifida occulta is characterized by variable absence of several neural arches and various cutaneous [slideshare.net]

• Skin Ulcer

  Skin ulcerations on the feet are common. Unilateral calf atrophy or club foot should be a strong indicator. Symptom onset may rarely be delayed until late in adult life. A fusiform widening of th spinal canal is seen roentgenographically. [quizlet.com]

• Paresthesia

  Since most patients are asymptomatic for many years, the majority of them remain undiagnosed until neck injury, pain or paresthesias in the neck or arm warrant an imaging evaluation. [bmcmedimaging.biomedcentral.com]

  Patients who were symptomatic with pure basilar impression had the dominant complaints of motor and sensory disturbances, and 85% had weakness and paresthesia of the limbs. [clinicalgate.com]

  Patients with congenital spondylolisthesis show deficits in their neurological examinations. [5] A neurological evaluation includes an evaluation of pain, numbness, paresthesia, tingling, extremity sensation and motor function, muscle spasm, weakness [physio-pedia.com]

• Neurologic Manifestation

  McRae and Barnum 83 suggested that the key to development of neurologic manifestations lies with the odontoid and its position, an indication of the degree of actual or relative basilar impression. [clinicalgate.com]

Workup consists of MRI of the brain and complete spine, including sagittal and axial views. [musculoskeletalkey.com]

Isolated coccygeal dimples do not require further workup or treatment. FIGURE 9 Benign coccygeal dimple within the gluteal cleft and overlying the tip of the coccyx. [pediatrics.aappublications.org]

Workup An accurate radiologic evaluation is essential. Standard posteroanterior (PA) and lateral views of the entire spine are used for the initial evaluation. [emedicine.medscape.com]

This commonly presents as progressive scoliosis, which is often “atypical” ( e.g ., levoscoliosis, young age, or male gender), and the diagnosis is made by MRI as part of the scoliosis workup. [wjgnet.com]

• Occipital Encephalocele

  […] tissue, usually covered by meninges, through an opening between the frontal bone and the nasal and ethmoid bones. [ 3 ] Occipital encephalocele (Q01.2) Herniation of brain tissue, usually covered by meninges, through an opening in the occipital bone. [cdc.gov]

  Occipital encephaloceles are most common in European and North American populations, whereas frontal encephaloceles are most common among Asian populations. [pediatrics.aappublications.org]

  Chiari III malformation is serious though fortunately rare and may be diagnosed prenatally after identification of an occipital encephalocele containing herniated cerebellum in addition to the findings of Chiari II. [wjgnet.com]

If the MRI scan shows any evidence of these malformations, a neurosurgical consultation is recommended to develop the best treatment plan. [hopkinsmedicine.org]

The most commonly found spinal congenital anomalies include the filum terminale lipoma which is generally asymptomatic and incidental and the caudal regression syndrome for which no primary treatment exists. [uncch.pure.elsevier.com]

[…] range of motion may be limited, no treatment is indicated. [quizlet.com]

Each patient is unique and a treatment plan is made based on the risk of curve progression during growth. The treatment options include observation, bracing, and surgical intervention. [espine.com]

These may require separate treatment from the spinal curvature itself. The treatment for congenital scoliosis is aggressive in that if progression is noted, even for relatively small curves, surgery is indicated. [scoliosisassociates.com]

In addition, in cases where the natural history indicates a poor prognosis, orthotic treatment is contraindicated. [emedicine.medscape.com]

The necessity to diagnose children in their first year of life has many folds, firstly the management would be in favor of the child's growth and development and secondly, the prognosis could be clearer to the family and the medical staff as well. [ncbi.nlm.nih.gov]

The prognosis of os odontoideum depends on the clinical presentation. The prognosis is good if only mechanical symptoms ( torticollis or neck pain) or transient neurological symptoms exist. It is poor if neurological deficits slowly progress. [boneandspine.com]

Which pattern has the worst prognosis and is an indication for surgery. Review Topic QID: 881 ML 1 Select Answer to see Preferred Response PREFERRED RESPONSE 5 (OBQ05.116) A 2-year-old girl presents to the office for evaluation of spinal deformity. [orthobullets.com]

Klippel-Feil Syndrome: Clinical Features and Current Understanding of Etiology. Original Text by Clifford R. Wheeless, III, MD. [wheelessonline.com]

Large deformities can result due to the number of years of growth remaining. [16] Epidemiology /Etiology The etiology of congenital spine deformities varies greatly because there are many different types. [physio-pedia.com]

Although the exact etiology for this phenomenon is unknown, some attribute vertebral formation or segmentation anomalies to disruption of the vascular supply to that portion of the vertebral column[ 47 ]. [wjgnet.com]

Their etiology is not known, but it has been postulated that it may be similar to intraspinal lipomas, where dorsal mesenchyme is able to enter the neural tube secondary to premature disjunction and is subsequently induced to form these hamartomatous [radiologykey.com]

Retethering can occur, and if new symptoms suggest this as an etiology, reoperation is indicated. [musculoskeletalkey.com]

Introduction Congenital scoliosis is the failure of normal vertebral development during 4th to 6th week of gestation caused by developmental defect in the formation of the mesenchymal anlage Epidemiology incidence prevalence in general population estimated [orthobullets.com]

Large deformities can result due to the number of years of growth remaining. [16] Epidemiology /Etiology The etiology of congenital spine deformities varies greatly because there are many different types. [physio-pedia.com]

Epidemiology Neural tube defects (NTDs) are among the most common congenital abnormalities but prevalence varies between countries and races. [jnnp.bmj.com]

Normal Embryology and the Pathophysiology of Spinal Cord Tethering Dysraphic CNS malformations arise during the second, third, and fourth weeks of human embryogenesis, generally referred to as the period of neurulation. [pediatrics.aappublications.org]

This is the first documented research study that supports the TCM theory that "the Kidney governs the bones, and healthy bones give the body stabilization and prevent fracture." [ncbi.nlm.nih.gov]

The goal in these patients is to reestablish spinal balance and alignment and to prevent back pain, neurological deficits, as well as pulmonary lung dysfunction. [scoliosisassociates.com]

Depending on the type and severity of your child’s condition, the pediatrician may recommend one or more of the following treatment options: Back braces or casts in mild cases of scoliosis to prevent spine curvatures from worsening Surgery for kyphosis [childrensnational.org]

Prevent development of neurological deficits. What are congenital brain and spine malformations? Congenital abnormalities, called malformations, are conditions affecting the form and function of the nervous system. [hopkinsmedicine.org]

Early surgical intervention is vital to prevent the worsening of the curvature as the patient grows. To view video of imaging navigation for a complex scoliosis procedure, click on the image below. [espine.com]