Handbook of Abiogenetic Counseling Smith-Lemli-Opitz Affection

18 June 06:18

Smith-Lemli-Opitz Syndrome

    *Gastrointestinal

    *Surgical barometer and accepted analysis for anniversary specific condition

    *Genitourinary

    *Ultrasound of urinary amplitude at diagnosis

    *Treatment is abased aloft the action identified

    *Repair of hypospadias

    *Observe boys with cryptorchidism to see if ad-lib coast occurs

    *Determine chromosomal sex if cryptic genetalia is present.

    *Musculoskeletal

    *Simple abatement of extra digits

    *Skin

    *Cholesterol analysis has been appear to couldcause a abatement in photosensitivity and derma rashes.

    *Limit breadth of sun acknowledgment to abstain sun photosensitivity

    *Chromosomal abnormalities including Trisomy 18 (Growth deficiency, broken palate, and DD) and Trisomy 13 (Growth retardation, polydactyly, and DD)

    *Noonan affection (short stature, DD, cardiac defects, cryptorchidism)

    *Smith-Lemli-Opitz/RSH Foundation

    :P.O. Box 212

    :Georgetown, MA 01833

    :(978) 352-5885

    :Contact person: Cynthia Gold

    :email: info@smithlemliopitz.org

    :http://www.smithlemliopitz.org

    *Cunniff C, Affiliate 21. (2001). Administration of Abiogenetic Syndromes. Ed. Cassidy SB and Allanson JE. New York: John Wiley and Sons.

    *www.geneclinics.org

    *Jones KL (1997). Smiths Apparent Patterns of Animal Malformation. Philadelphia: W.B. Saunders Company.

    The advice in this outline was endure adapted in 2002.

Tags: counseling, syndrome

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