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17 Possible Causes for High Pitched Voice, Mental Retardation (25%), Poikiloderma

Did you mean: High Pitched Voice, Mental Retardation (25, ), Poikiloderma

  • Rothmund Thomson Syndrome

    This report confirms the clinical and genetic identity of the Clericuzio type of poikiloderma with neutropenia syndrome.[ncbi.nlm.nih.gov] Recently we encountered a 25-year-old white woman who had developed this syndrome but without juvenile cataracts, hypogonadism, or mental retardation.[ncbi.nlm.nih.gov] Development of erythema with cafe-au-lait spots and not pokiloderma, slender built, narrow delicate face, prominent nose and high-pitched voice in Bloom's syndrome are essential[idoj.in]

  • Microcephalic Osteodysplastic Primordial Dwarfism Type II

    ., Department ofDermatology, Faculty of Medicine, Pamukkale University, 20010Denizli, Turkey, or e-mail: sergin@pau.edu.tr.Brief Reports 401and poikiloderma have been described[documents.tips] All children have marked intrauterine and postnatal growth failure, microcephaly, and mental and statomotor retardation.[eurekamag.com] Intrauterine development Intrauterine growth retardation Neurologic Abnormality Developmental delay (mild-severe) Infarcts Moyamoya disease Multiple aneurysms Performance High-pitched[datagenno.com]

  • X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome

    […] paraplegia-facial-cutaneous lesions syndrome Spastic paraplegia-glaucoma-intellectual disability syndrome Spastic paraplegia-nephritis-deafness syndrome Spastic paraplegia-neuropathy-poikiloderma[se-atlas.de] Hum Genet 59:23–25 Google Scholar Nielsen KB, Tommerup N, Dyggve HV, Schou C (1981b) Macroorchidism, mental retardation and the fragile X.[link.springer.com] The best-known example is cri-du-chat syndrome, which is characterized by a high-pitched voice and is caused by a deletion in chromosome 5p3. [10] Note that most fetuses with[emedicine.medscape.com]

  • Seckel Syndrome

    , hereditary acrokeratotic, Kindler-Weary type 楢原 幸二 509 261 poikiloderma, sclerosing, hereditary 楢原 幸二 511 262 Poland syndrome 楢原 幸二 513 263 polyposis-alopecia-pigmentation-nail[nippon-rinsho.co.jp] […] protrusion, and severe mental retardation.[ncbi.nlm.nih.gov] She also displayed high-pitched voice. The age of menarche was 15 years. She had regular menstrual cycles.[termedia.pl]

  • Acrootoocular Syndrome

    Cornea RDC 180550 Genetic Test Registry Roberts Syndrome Long Bone Deficiencies Associated With Cleft Lip-Palate RBS 268300 Genetic Test Registry Rothmund-Thomson Syndrome Poikiloderma[ukgtn.nhs.uk] . – Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR): caused by KIF11 mutation.[bredagenetics.com] […] myopia Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched[icdlist.com]

  • Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome

    […] telomere-related TERT Aplastic anemia, Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure, telomere-related TINF2 Dyskeratosis congenita, Revesz syndrome USB1 Poikiloderma[genda.com.ar] […] somatic and mental maturation Leukoencephalopathy with vanishing white matter 25, 26 EIF2B2, EIF2B4, EIF2B5 Encephalopathy with leukodystrophy Mental retardation, X linked[endocrine.gr] Physical examination showed feminine appearance characterized by female body fat distribution, high-pitched voice and eunuchoidal body proportions (height 175 cm, arm span[bmcendocrdisord.biomedcentral.com]

  • Autosomal Dominant Mental Retardation 28

    […] paraplegia-facial-cutaneous lesions syndrome Spastic paraplegia-glaucoma-intellectual disability syndrome Spastic paraplegia-nephritis-deafness syndrome Spastic paraplegia-neuropathy-poikiloderma[se-atlas.de] Diagnostic investigation in individuals with mental retardation: a systematic literature review of their usefulness. Eur J Hum Genet 13:6-25, 2005. 4.[siicsalud.com] The best-known example is cri-du-chat syndrome, which is characterized by a high-pitched voice and is caused by a deletion in chromosome 5p3. [10] Note that most fetuses with[emedicine.medscape.com]

  • Lelis Syndrome

    Poikiloderma in childhood Hypekeratotic and clerotic cutaneous bands extending across antecubital spaces, axillary vaults, and popliteal fossa Aortic stenosis, clubbing of[slideplayer.com] Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance. Circulation. 1962; 26 :1235–40. [ PubMed ] [ Google Scholar ] 3.[ncbi.nlm.nih.gov] pitched voice 60 33 occasional (7.5%) Occasional (29-5%) HP:0001620 18 sparse lateral eyebrow 60 33 occasional (7.5%) Occasional (29-5%) HP:0005338 19 abnormal toenail morphology[malacards.org]

  • Aplasia Cutis - Myopia Syndrome

    […] nasal bridge, small/low-set ears small thorax, short limbs, hypoplastic iliac wings, Stickler facies, Pierre-Robin sequence, CLP, sex reversal XY males with female phenotype Poikiloderma[quizlet.com] Some patients have also had ophthalmic and neurologic findings typical of epidermal nevus syndrome, including seizures, mental retardation, corneal opacities, and eyelid colobomas[emedicine.medscape.com] pitches, squeaky voice Psychosocial: severe problems related to appearance Werner syndrome Inheritance Age at presentation Pathogenesis DDx Lab data Prognosis AR, RECQL2[brainscape.com]

  • Autosomal Recessive Mental Retardation 46

    […] paraplegia-facial-cutaneous lesions syndrome Spastic paraplegia-glaucoma-intellectual disability syndrome Spastic paraplegia-nephritis-deafness syndrome Spastic paraplegia-neuropathy-poikiloderma[se-atlas.de] MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA FG SYNDROME 4 MENTAL RETARDATION, X-LINKED, CASK-RELATED CASPR2 (K67/25) CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME AUTISM[neuromab.ucdavis.edu] The best-known example is cri-du-chat syndrome, which is characterized by a high-pitched voice and is caused by a deletion in chromosome 5p3. [10] Note that most fetuses with[emedicine.medscape.com]

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