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918 Possible Causes for Forearm Reduction Defects, High Pitched Voice, Mental Retardation (25%)

Did you mean: Forearm Reduction Defects, High Pitched Voice, Mental Retardation (25, )

  • Rothmund Thomson Syndrome

    reduction defects, small hands with hypoplasia of the middle phalanx (little finger) in one of the probands, epicanthus, hypertelorism, and dental abnormalities.[] Recently we encountered a 25-year-old white woman who had developed this syndrome but without juvenile cataracts, hypogonadism, or mental retardation.[] 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[]

  • Dubowitz Syndrome

    […] terms Syndromes with CLP 19 terms Boys (and some girls) with Mental Retardation[] Speech delays, an unusually soft, high-pitched voice, submucous cleft palate, and velopharyngeal insufficiency were noted in childhood.[] Other notable features are a high-pitched voice, gastrointestinal irritation (presenting as diarrhea), the presence of eczema, genital disorders (cryptorchidism, hypospadias[]

    Missing: Forearm Reduction Defects
  • Microcephalic Osteodysplastic Primordial Dwarfism Type II

    All children have marked intrauterine and postnatal growth failure, microcephaly, and mental and statomotor retardation.[] Intrauterine development Intrauterine growth retardation Neurologic Abnormality Developmental delay (mild-severe) Infarcts Moyamoya disease Multiple aneurysms Performance High-pitched[] Short stature Small head size Abnormal hip development (hip dysplasia) Spine curvature (scoliosis) Thinning of arm and leg bones high pitched voice Indentifiable facial features[]

    Missing: Forearm Reduction Defects
  • Schwartz-Jampel Syndrome

    The prevalence of mental retardation has been estimated at 25%, however, no etiologic cause has been described.[] Associated defects include a high-pitched voice, low hairline, low-set small ears, small testes, high-arched palate, and occasiona pes euinovarus.[] Some degree of mental retardation occurs in about 25% of patients.[]

    Missing: Forearm Reduction Defects
  • Bloom Syndrome

    Bloom syndrome listen (… SIN-drome) A rare, inherited disorder marked by height that is shorter than average, a narrow face with redness and a rash, a high-pitched voice,[] People with Bloom syndrome are much smaller than average, and often have a high-pitched voice and characteristic facial features including a long, narrow face; small lower[] People with Bloom syndrome have a high pitched voice and unique facial features, including a long narrow face, a small jaw, and large ears and nose.[]

    Missing: Forearm Reduction Defects Mental Retardation (25%)
  • Mulibrey Nanism Syndrome

    161 cm for males and from 126 to 151 cm for females Delayed puberty Hands and feet appear relatively large in relation to body Intrauterine growth deficiency Performance High-pitched[] pitched voice * Hypodontia of second bicuspid * Growth retardation Causes - Mulibrey Nanism syndrome Not supplied.[] Characteristic features also include yellowish dots in the retinal mid peripheral region, a high-pitched voice and cutaneous naevi flammei.[]

    Missing: Forearm Reduction Defects Mental Retardation (25%)
  • Mental Retardation

    Profound mental retardation: IQ below 20–25; usually caused by a neurological condition; require constant care.[] 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[] 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[]

    Missing: Forearm Reduction Defects
  • Congenital Muscular Dystrophy

    J Hum Genet. 2017 Nov;62(11):945-948. doi: 10.1038/jhg.2017.71. Epub 2017 Jul 6. Author information 1 Division of Molecular Brain Science/Neurology, Kobe University Graduate School of Medicine, Kobe, Japan. 2 Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan. 3 Department of Pediatrics, Kobe[…][]

    Missing: Forearm Reduction Defects Mental Retardation (25%)
  • Klinefelter Syndrome

    Consequence of missing the diagnosis Early studies of KS revealed an increased risk of psychiatric disturbances, criminal behavior, and mental retardation ( 25 – 27 ), but[] Sterility (inability to produce live sperm) Overweight Level of activity and endurance lower than others their age Restless sleep patterns, but hard to awake in the morning High-pitched[] Klinefelter syndrome accounts for 10% to 20% of males attending infertility clinics. 25 Mental retardation is a feature in a small percentage of patients with Klinefelter[]

    Missing: Forearm Reduction Defects
  • Spinocerebellar Ataxia Type 20

    Handb Clin Neurol. 2012;103:567-73. doi: 10.1016/B978-0-444-51892-7.00038-3. Author information 1 Department of Medicine (Neuroscience), Monash University (Alfred Hospital Campus), Melbourne, Australia. Abstract Spinocerebellar ataxia type 20 (SCA20), first reported in 2004, is a slowly[…][]

    Missing: Forearm Reduction Defects Mental Retardation (25%)

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