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15 Possible Causes for Agenesis of the Occipital Lobes, Scoliosis

  • Congenital Muscular Dystrophy

    CONCLUSIONS: The natural history of scoliosis, respiratory function and walking ability in UCMD patients were characterised.[ncbi.nlm.nih.gov] Uncommonly, agenesis of septum pellucidum can be seen. Polymicrogyria typically seen in the frontal and parietal lobes.[neuroradiologycases.com] When comparing patients with and without scoliosis, the increases in APCF and UPCF were more pronounced in those without scoliosis.[ncbi.nlm.nih.gov]

  • Femoral Agenesis - Femoral Hypoplasia

    […] dimples Pointed chin Depressed nasal bridge Cleft nose / bifid tip Thin lips Long philtrum Low set ears Anteverted / prominent / bat ears Sprengel anomaly Inguinal hernia Scoliosis[mediscansystems.org] (A) and parietal (B) lobes on both sides Click here to view Figure 4 :Caudal regression syndrome (complete agenesis of sacrum): Frontal radiograph of the pelvis shows a contracted[ijri.org] The fetal spine assessing the degree of ossification, hemivertebrae, scoliosis, gross vertebral disorganization, and platyspondylia.[perinatology.com]

  • Femoral Hypoplasia

    Scoliosis. Genitourinary. Cryptorchidism. Small penis, testis or labia majora. Inguinal hernia. Polycystic kidney. Absent kidney. Others.[fetalultrasound.com] (A) and parietal (B) lobes on both sides Click here to view Figure 4 :Caudal regression syndrome (complete agenesis of sacrum): Frontal radiograph of the pelvis shows a contracted[ijri.org] […] dimples Pointed chin Depressed nasal bridge Cleft nose / bifid tip Thin lips Long philtrum Low set ears Anteverted / prominent / bat ears Sprengel anomaly Inguinal hernia Scoliosis[mediscansystems.org]

  • Crossed Polysyndactyly

    […] bridge Postaxial polydactyly Polydactyly Hypogonadism Cataract Obesity Cognitive impairment Hypogonadotrophic hypogonadism Overlapping fingers Recurrent aphthous stomatitis Scoliosis[mendelian.co] Computerized to- mography showed severe craniofacial anomalies, cranio- nasal dysostosis, hypertelorism, areas of pachygyria in the left occipital lobe, and agenesis of the[documentslide.com] Skeletal Deformities There may be additional skeletal abnormalities including abnormal side-to-side (scoliosis) or front-to-back (kyphosis) curvature of the spine, abnormal[rarediseases.org]

  • Occipital Encephalocele

    This traction causes low back pain, scoliosis, lower extremity weakness and sensory loss, and bowel and bladder dysfunction.[neuropathology-web.org] MRI also showed mild hydrocephalus, hypoplasia of the corpus callosum and tentorium cerebelli, dropping down of the bilateral occipital lobes and vermicular agenesis.[link.springer.com] Magnetic resonance imaging (MRI) clearly showed an occipital cephalocele with a tiny cystic component connecting to the subarachnoid space.[link.springer.com]

  • Ring Chromosome 19

    […] p15q25); RC instability; and maternal chromosome analysis was normal (6) a 11 years/MObesity–Microcephaly–Mild mental retardation, PMDDCryptorchidism, ocular abnormalities scoliosis[edmcasereports.com] […] of the corpus callosum and mild changes in the white matter in the occipital lobes; several generalized tonic-clonic seizures started at 1 year of age.[ssmc-tl.com] FPrecocious puberty, severe hirsutism amenorrhea, androgenic alopecia, clitoromegaly, diabetes, and insulin resistance–Short statureFDPMDDVentricular septal defect, severe scoliosis[edmcasereports.com]

  • Commissural Facial Cleft

    T1 - Minimal contour defect with no cranial nerve involvement (a), T2 - Moderate defect (b), T3 - Major defect, obvious facial scoliosis, severe hypoplasia of cranial nerves[jclpca.org] The cephalocele sac variably includes the brainstem, occipital lobes, subarachnoid or ventricular CSF spaces, and the dural venous sinuses.[kundoc.com] […] eye involvement facial clefts (c) Click here to view T1 - Minimal contour defect with no cranial nerve involvement T2 - Moderate defect T3 - Major defect, obvious facial scoliosis[jclpca.org]

  • Lethal Arthrogryposis - Anterior Horn Cell Disease Syndrome

    While glucocorticoids have significantly reduced the occurrence of scoliosis, the incidence of vertebral fractures has increased.[clinicaladvisor.com] […] hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly[mendelian.co] An autosomal dominant variant called distal arthrogryposis involves the hands and feet with severe deformation but with only minor contractures more proximally; scoliosis[obgynkey.com]

  • Autosomal Recessive Distal Osteolysis Syndrome

    Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features.[mendelian.co] Nestor-Guillermo Progeria Syndrome (NGPS) is an atypical form of progeria characterised by severe osteolysis (of mandible, clavicles, ribs, distal phalanges and radii), short stature, scoliosis[exeterlaboratory.com] Pterygia, scoliosis, and clubfoot.[musculoskeletalkey.com]

  • Short Rib-Polydactyly Syndrome Type Beemer-Langer

    Limbs hip : Dislocation of hip / Hip dysplasia feet ( Club foot, Flat feet, Pes cavus ) head, face, spine and chest: skull, face and jaw ( Dolichocephaly, Plagiocephaly ) - Scoliosis[bionity.com] […] meningocele Olfactory lobe agenesis Everted upper lip vermilion Broad foot Pancreatic islet-cell hyperplasia Cutaneous syndactyly Depressivity Alopecia Proteinuria Sparse[mendelian.co] ) systemic dislocations Larsen syndrome head, face, spine and chest : skull, face and jaw ( Dolichocephaly, Greig cephalopolysyndactyly syndrome, Plagiocephaly ) - spine Scoliosis[wikidoc.org]

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