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18q deletion syndrome

Discussion in 'Biomechanics, Sports and Foot orthoses' started by markjohconley, Aug 10, 2012.

  1. markjohconley

    markjohconley Well-Known Member

    Members do not see these Ads. Sign Up.
    Tried searching in PA no luck. Any advice appreciated, mark

    CC: A 28 y/o white male with a medical history of "18q deletion syndrome" (generalised decreased joint stiffness).
    No symptoms were able to be elicited from the patient, nor the two carers who accompanied the patient, nor the mother.

    HPI: Carers report the patient refuses to wear the OTC foot orthoses prescribed to him by a local priivate podiatrist. The patient prefers slippers.

    PMH: No other medical history forthcoming.

    PE: The patient would not fully cooperate with any examination attempts.
    Most of the time in stance he had bilateral externally rotated hip, slightly flexed knees and pes cavus. Occasionally he would extend his knees into genu recurvatum. His left foot had an obvious abducted forefoot.

    Gait examination: Bilateral high knee lift with both feet contacting the surface in a midfoot position.

    Neurological: unable to assess
    Vascular: unable to assess


    1. 18q deletion syndrome
    2. ?

    Treatment Plan:
    1. Nothing till advice from more knowledgeable clinicians is received.
  2. admin

    admin Administrator Staff Member

    Distal 18q-

    Distal 18q- is a genetic condition caused by a deletion of genetic material within one of the two copies of chromosome 18.[1] The deletion involves the distal section of 18q and typically extends to the tip of the long arm of chromosome 18.[citation needed]

  3. markjohconley

    markjohconley Well-Known Member

    Thanks Admin. Did you read the, "There is also a significant chance of developing pes planus or pes cavus"
    The query is which joint(s) should we increase / decrease which moments?
    Which tissue is being stressed beyond the ZOOS, or is in danger of being so in the future?
  4. LuckyLisfranc

    LuckyLisfranc Well-Known Member


    I run a monthly clinic looking after kids with del22q11 (DiGeorge/ Velocardiofacial Syndrome).

    Like your patient, they are prone to an almost infinite range of orthopaedic and MSK congenital abnormalities, along with just about every other system including serious psychiatric problems.

    They are extremely prone to "leg pains".

    There is almost no literature on best practice for these patients and those symptoms.

    Therefore, in the absence of evidence based options, my advice is to return to first principles and assess and treat as per any other child who would present with these abnormalities. Communication problems abound, so the parent/s are the best source of subjective information.

    It's not easy...

  5. efuller

    efuller MVP

    Where are the calluses? What does the inside of the slipper look like?

    Pes cavus will often cause an equinus. Equinus can cause recruvatum. Pes cavus will often cause high forefoot loads. Without any further information that would make this totally wrong, I would make a soft orthotic from a partial weight bearing foam box impression with a heel lift. That would be after finding out whether the patient would ever wear a shoe that would accommodate the device.

  6. markjohconley

    markjohconley Well-Known Member

    Thanks Messrs Lisfranc and Fuller.
    From what I was told from what she was told slippers are the only footwear of choice at the moment. Calluses and pressure map on sock lining / insole are to be assessed next appt, thanks, mark

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