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20 Possible Causes for Prominent Sulci, Tall Stature

  • Pneumothorax

    statur e ) (e.g., in Marfan syndrome ) Smoking : 90% of cases ; up to 20-fold increase in risk (risk increases with cumulative number of cigarettes smoked) Homocystinuria[amboss.com] , darkened lung field and prominent heart border.[oxfordmedicaleducation.com] Tall stature and low body mass index are also associated with higher rates of PSP.[web.archive.org]

  • Sotos Syndrome

    Constitutional tall stature Tall stature in childhood usually presents less initial concern than short stature because, at least in early childhood, being tall can be advantageous[childgrowthfoundation.org] Other non-specific neurological abnormalities include absent corpus callosum, prominent cortical sulci, cavum septum pellucidum and cavum velum interpositi [ 17 ].[ncbi.nlm.nih.gov] Her mother also had tall stature and a long narrow face. The baby and her mother were suspected of having familial SS.[ncbi.nlm.nih.gov]

  • Combined Oxidative Phosphorylation Defect Type 11

    Stature, And Hearing Loss Syndrome 5 Camptomelic Dysplasia 7 Camptosynpolydactyly, Complex 2 Camurati-Engelmann Disease 2 CARASIL Syndrome 2 Carcinoid Tumors, Intestinal[preventiongenetics.com] 1 Bullous Erythroderma Ichthyosiformis Congenita Of Brocq 2 Burn-McKeown Syndrome 1 Butyrylcholinesterase Deficiency 1 C-Like Syndrome 1 Caffey Disease 3 Camptodactyly, Tall[preventiongenetics.com]

  • Macrocephaly

    Cranial magnetic resonance imaging (MRI) showed prominent subarachnoid cortical sulci, Sylvian fissure, and basal cisterns ( Figs 1 and 2 ).[scielo.br] Homepage Rare diseases Search Search for a rare disease Overgrowth-macrocephaly-facial dysmorphism syndrome Disease definition This syndrome is characterised by tall stature[orpha.net] Cranial computed tomography (CT) showed encephalomalacia, widening of ventricles and the sulci, and hemimegalencephaly.[ncbi.nlm.nih.gov]

  • Citrullinemia Type 2

    B, Contrast-enhanced axial CT scan shows prominent cingulate gyri atrophy and ulegyric changes in the frontal lobes.[ajnr.org] stature, and hearing loss syndrome Camptomelic dysplasia Carbohydrate-deficient glycoprotein syndrome type I CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED Cardio-facio-cutaneous[pentacorelab.hu] A, Contrast-enhanced axial CT scan shows bilateral and symmetric hypoattenuating areas located in the depth of the sulci in both frontal lobes ( arrows ), with sparing of[ajnr.org]

  • Canavan Disease

    While gyri and sulci had an almost normal US appearance, the periventricular gray matter featured prominently with increased echogenicity.[ncbi.nlm.nih.gov] stature, seizures, myopia, ectopia lentis Stroke, basal ganglia and white matter hyperintensity Plasma total homocysteine level, genetic analysis Vitamin B6 Pseudo-TORCH[ncbi.nlm.nih.gov] […] diplegia, GDD/ID, myopia Non-progressive white matter T2 hyperintensity Abnormal leukotriene metabolites in urine, genetic analysis None Homocystinuria CBS, MTHFR GDD/ID, tall[ncbi.nlm.nih.gov]

  • Neuhauser Syndrome

    Cranial magnetic resonance imaging (MRI): prominent subarachnoid cortical sulci, Sylvian issure, and basal cisterns. Fig 2.[text-br.123dok.com] stature-scoliosis-hearing loss syndrome CANOMAD Syndrome Cantalamessa Baldini Ambrosi Syndrome Cantu Sanchez-Corona Fragoso Syndrome Capgras syndrome capillary leak syndrome[rgd.mcw.edu] Cranial magnetic resonance imaging (MRI) showed prominent subarachnoid cortical sulci, Sylvian fissure, and basal cisterns ( Figs 1 and 2 ).[scielo.br]

  • Lenz-Majewski Syndrome

    STATURE, AND HEARING LOSS SYNDROME; CATSHLS Sequencing of hotspots Sequencing of all coding exons of the gene - 2.4 FGFR3 Crouzon Syndrome Sequencing of hotspots Sequencing[cegat.de] Marked cortical atrophy with prominent sulci and extra cerebral CSF spaces were noted.[jpma.org.pk] […] retardation Sequencing of all coding exons of the gene - - 2.5 FGFR3 Achondroplasia Sequencing of hotspots Sequencing of all coding exons of the gene - 2.4 FGFR3 CAMPTODACTYLY, TALL[cegat.de]

  • Cerebro-Costo-Mandibular Syndrome

    In the brain magnetic resonance imaging, left parieto-frontal cortical sulci, fissure, and basal cistern were prominent.[advbiores.net] […] conditions: Achondroplasia Thanatophoric dysplasia types 1 and 2 Hypochondroplasia Severe achondroplasia with developmental delay and acanthosis nigricans Camptodactyly, tall[emedicine.medscape.com] stature, and hearing loss syndrome Type 2 collagen group This includes the following conditions: Achondrogenesis type 2 Platyspondylic dysplasia (Torrance type) Hypochondrogenesis[emedicine.medscape.com]

  • 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

    sulci and fissures, subcortical cystlike lesions shown on T1-weighted images, and hyperintense lesions at the periventricular white matter shown on T2-weighted images ( 5[ajnr.org] stature-intellectual disability-facial dysmorphism syndrome Tangier disease Tay-Sachs disease Tay-Sachs disease, B variant, adult form Tay-Sachs disease, B variant, infantile[se-atlas.de] Neuroimaging studies, such as MR imaging, may have helped to evaluate brain damage in patients with BH4 deficiency, such as symmetrical calcifications in the lentiform nuclei, prominent[ajnr.org]

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