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spot diagnosis

Discussion in 'Spot Diagnosis' started by Mishary almalkey, Jan 30, 2013.

  1. Mishary almalkey

    Mishary almalkey Active member

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  2. neo_star

    neo_star Moderator

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    fusion of metopic suture for sure - so trigonocephaly + i guess also coronal suture - so that makes it oxycephaly

    Can't really comment on the other sutures with just this view....but Clover leaf skull / Kleeblattschädel deformity if there is pansynostosis
     

  3. Mishary almalkey

    Mishary almalkey Active member

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    sagittal and bicoronal are the only affected sutures in this syndrome. Sagittal craniosynostosis results in long narrow skull while bicoronal craniosynostosis results in wide and short skull. Adding these together results in cone shaped head or short broad head (like in this picture). If you add syndactyly you will get the diagnosis. 14511_carpenter_syndrome_carpenter_syndrome.jpg
     

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  4. neo_star

    neo_star Moderator

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    Carpenter syndrome.
     

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  5. Emergency medicine Mike

    Emergency medicine Mike Bronze Member

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    Carpenter syndrome. Coronal craniosynostosis.
     

  6. neo_star

    neo_star Moderator

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    Related Self Assessment Question


    [FONT=&quot]What is Carpenter syndrome?

    [/FONT]

    [FONT=&quot]a) Craniosynostosis with craniofacial dysmorphism finger and toe abnormalities heart defects growth retardation and other disorders
    [/FONT]

    [FONT=&quot]b) A neurocutaneous syndrome characterized by a bizarre more or less symmetrical leukoderma with depigmented streaks patches and whorls sometimes associated with hyperkeratosis follicularis Associated disorders include seizures psychomotor retardation macrocephaly and ophthalmological and other abnormalities
    [/FONT]

    [FONT=&quot]c) Mental retardation retinal pigmentary degeneration spastic cerebral palsy and microcephaly with variable expressivity Mirhosseini-Holmes-Walton and Cohen syndromes share many common characteristics
    [/FONT]

    [FONT=&quot]d) A multiple congenital anomaly/mental retardation syndrome with a complex phenotype and age-related variability of expression Typical facial appearance (elfin facies) is the most characteristic feature of this syndrome Delayed growth feeding difficulty failure to thrive colic otitis media and mental retardation are the early symptoms in infancy Developmental disabilities and cardiovascular complications become apparent later in childhood Hypertension gastrointestinal problems and genitourinary disorders usually complicate adult development The phenotype may overlap with hypercalcemia with or without mental retardation and supravalvular aortic stenosis with or without mental retardation

    Ans A
    [/FONT]
     

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