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    reema amyn
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    This document discusses several pathologies associated with gastrulation, including holoprosencephaly, sirenomelia, and situs inversus. It also discusses sacrococcygeal teratoma. Holoprosencephaly is caused by defects in the SHH gene or exposure to teratogens, and results in facial anomalies and brain abnormalities. Sirenomelia involves fusion of the lower limbs and is caused by disturbed mesoderm migration or teratogen exposure during neurulation. Situs inversus is a rare condition where the major visceral organs are mirrored. Sacrococcygeal teratoma is a tumor that arises from remnants of the primitive streak and contains various tissue types.

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    PRESENTATION OF ANATOMY

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    Anatomy Presentation

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    This document discusses several pathologies associated with gastrulation, including holoprosencephaly, sirenomelia, and situs inversus. It also discusses sacrococcygeal teratoma. Holoprosencephaly is caused by defects in the SHH gene or exposure to teratogens, and results in facial anomalies and brain abnormalities. Sirenomelia involves fusion of the lower limbs and is caused by disturbed mesoderm migration or teratogen exposure during neurulation. Situs inversus is a rare condition where the major visceral organs are mirrored. Sacrococcygeal teratoma is a tumor that arises from remnants of the primitive streak and contains various tissue types.

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    4 views11 pages

    Pathologies of Gastrulation

    Uploaded by

    reema amyn
    This document discusses several pathologies associated with gastrulation, including holoprosencephaly, sirenomelia, and situs inversus. It also discusses sacrococcygeal teratoma. Holoprosencephaly is caused by defects in the SHH gene or exposure to teratogens, and results in facial anomalies and brain abnormalities. Sirenomelia involves fusion of the lower limbs and is caused by disturbed mesoderm migration or teratogen exposure during neurulation. Situs inversus is a rare condition where the major visceral organs are mirrored. Sacrococcygeal teratoma is a tumor that arises from remnants of the primitive streak and contains various tissue types.

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    of 11

    Pathologies associated

    with Gastrulation
    content
    Teratogenesis associated with
    Gastrulations
     Holoprosencephaly (Iqra ali)
     Sirenomelia (Bysma Ali)
     Situs inversus (Amna Sohail)
    Tumors
     Sacrococcygeal teratoma (Farhan Naveed)
    Holoprosencephaly
    Basic terms
     CNS of the developing fetus is divided
    into 3 regions.
    ○ Prosencephalon (cerebral

    hemisphere)
    ○ Mesencephalon (mid brain)

    ○ Rhombencephalon (spinal chord)

     SHH Gene: form Sonic hedgehog


    protein. It function as a chemical signal
    essential for embryonic
    development.Its role is in cell growth,
    spealization and normal shaping of
    body.
    CAUSES
    •Defect in SHH gene
    •Maternal diabetes
    •Taratogens (high dose of alcohol)
    Effects
    •Prosencephelon fails to develop
    properly (merged lateral ventricles)
    Features
    •Small forebrain
    •Merged lateral ventricles
    •Facial anomalies
    Eyes abnormally close together
    deformed palate
    Sirenomelia
     SIREN MERMAID
     MELOS LIMB
    Sirenomelia refers to a constellation of disease
    ranging from minor lesions of lower vertebrae
    to complete fusion of lower limbs
    Causes
     Disturbed migration of mesoderm
     Teratogen exposure effecting neural tube during
    neurulation
     Underdevelopment of aorta below umbilical
    chord
    Diganosis
     Though obvious at birth sirenomelia can be
    diagnosed at early as 14 weeks of gestation on
    parental ultrasound
    VATER
     Vertebral defects
     Anal atresia
     TracheoEsophagel fistula
     Renal atresia
    VACTERL :
     similar to VATER but includes
    Cardiovascular defects and upper limb
    defects
    Classification
    Situs inversus
     Mirrored positioning of the major visceral
    organs
     Patients are usually asymptomatic

     Found in just about 0.01% of the

    population.
     Triad of situs
    inversus, chronic
    sinusitis, and
    bronchiectasis is
    called Kartagener’s
    syndrome.
    ○ Caused by
    defective
    movement of cilia
    ○ Causes recurrent
    chest infections,
    ear/nose/throat
    symptoms, and
    infertility
    Sacrococcygeal teretoma
     Tumor arises from
    raminant of Primitive
    Streak that normally
    degenerates
     Derived from pluripotent
    cells
     Contain various types of
    tissues (bone, hair, nail)
     Birth defect, more
    common in female
     Become malignant (must
    be removed at age of 6
    months)
    THANKS

    THANKS!

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