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Spot Diagnosis

Discussion in 'Spot Diagnosis' started by Egyptian Doctor, Oct 21, 2013.

  1. Egyptian Doctor

    Egyptian Doctor Moderator Verified Doctor

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    What is your provisional diagnosis for this patient ?

    Many answers can be accepted in most of the cases uploaded in spot diagnosis section , I add the right answer according to original story of the photo.

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  2. Wahid ahmed

    Wahid ahmed Well-Known Member

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    Neurofibroma, retinoblastoma, hydrocephalus? Where is the right answer?
     

  3. khaled matar

    khaled matar Young Member

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    clover leaf syndrome
     

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  4. Wahid ahmed

    Wahid ahmed Well-Known Member

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    Cloverleaf skull is a rare malformation syndrome in which the
    head has a cloverleaf aspect. It is caused by the premature
    closure of several sutures and is apparent from birth. Only
    120 cases only have been reported so far, with more cases
    reported in girls than in boys. In severe forms, bilateral
    bulging of the skull in temporal regions and on the top induce
    a downward displacement of the ears, which face the
    shoulders. Exophthalmos is linked to shallowness of the orbits
    and the eyelids may fail to close, leading to corneal
    ulceration. Several other dysmorphic signs have been
    described: hypertelorism, flattened nose root and mid-face
    hypoplasia. Venous distension of the scleras and scalp has
    been noted. Hydrocephalus is often associated, sometimes
    because of obstruction of the cerebral aqueduct.
    Malformations of the brain and cerebellum have also often
    been described. Cloverleaf skull may be observed as an
    isolated condition or together with other anomalies making up
    various syndromes known to have different causes: Crouzon
    disease, Pfeiffer syndrome, Carpenter syndrome, campomelic
    dwarfism, type II thanatophoric dwarfism, Jeune asphyxiating
    thoracic dystrophy and amniotic rupture sequence. Early
    death has been noted in most cases. In exceptional cases of
    survival, motor retardation is associated with increased intra-
    cranial pressure that necessitates a ventriculo-peritoneal
    shunt.
     

  5. Egyptian Doctor

    Egyptian Doctor Moderator Verified Doctor

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    Answer : Treacher Collins Syndrome
     

  6. Wahid ahmed

    Wahid ahmed Well-Known Member

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    Treacher-Collins syndrome is a condition that is passed down through families (hereditary) that leads to problems with the structure of the face.

    Causes
    Treacher-Collins syndrome is caused by a defective protein called treacle. The condition is passed down through families (inherited).

    This condition may vary in severity from generation to generation and from person to person.

    Symptoms
    • Outer part of the ears are abnormal or almost completely missing
    • Hearing loss
    • Very small jaw (micrognathia)
    • Very large mouth
    • Defect in the lower eyelid (coloboma)
    • Scalp hair that reaches to the cheeks
    • Cleft palate
    Exams and Tests
    The child usually will show normal intelligence. Examination of the infant may reveal a variety of problems, including:

    • Abnormal eye shape
    • Flat cheekbones
    • Clefts in the face
    • Small jaw
    • Low-set ears
    • Abnormally formed ears
    • Abnormal ear canal
    • Hearing loss
    • Defects in the eye (coloboma that extends into the lower lid)
    • Decreased eyelashes on the lower eyelid
    Genetic tests can help identify gene changes linked to this condition.

    Treatment
    Hearing loss is treated to ensure better performance in school.

    A good plastic surgeon is very important, because children with this condition sometimes need a series of operations to correct birth defects. Plastic surgery can correct the receding chin and other changes in face structure.

    Support Groups
    Treacher Collins Foundation -- www.treachercollinsfnd.org

    Outlook (Prognosis)
    Children with this syndrome typically grow to become normally functioning adults of normal intelligence.

    Possible Complications
    • Feeding difficulty
    • Speaking difficulty
    • Communication problems
    • Vision problems
    When to Contact a Medical Professional
    This condition is usually seen at birth.

    Genetic counseling can help families understand the condition and how to care for the patient.

    Prevention
    Genetic counseling is recommended if you have a family history of this syndrome and wish to become pregnant.

    Alternative Names
    Mandibulofacial dysostosis
     

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