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treacher-collins syndrome…

 

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mandibulofacial dysostosis, treacher-collins syndrome, hereditary condition that causes, facial defects, treacher-collins syndrome is inherited, an autosomal dominant trait, than half of all cases, thought to be new mutations, no family history, a defective gene, treacle, the cause of this disease, condition has variable expression, there a great variation in severity from generation to generation, abnormal to completely absent external ears, hearing loss, very small jaw, micrognathia, very large mouth, defect, in the lower eyelid, coloboma, scalp hair extends onto cheeks, cleft palate, child, normal intelligence, examination, the infant, various abnormalities, abnormal eye shape, palpebral fissure, antimongoloid slant, flat cheekbones, facial clefts, small jaw, low-set ears, malformed ears, abnormal ear canal, conductive hearing loss, defects, in the eye, coloboma that extends, lower lid, decreased eyelashes on the lower eyelid, genetic testing, mutations on the treacle gene, treatment consists of testing, treating any hearing loss so that a child, perform up to normal level in school, plastic surgery, address the receding chin, defects, treacher collins foundation, treachercollinsfnd, children, treacher-collins typically grow to, become, functioning adults of normal intelligence, careful attention to any hearing problems helps ensure better performance in school, feeding difficulty, speaking difficulty, communication problems, vision problems, cosmetic appearance, cause other people to think the problem is worse than it, condition, apparent at birth, child, treacher-collins syndrome, hearing appears to be worse, problems arise, a good plastic surgeon is very important, is sometimes a need, operations over years, birth defects, genetic counseling is appropriate, prospective parents, a family history of treacher-collins syndrome.



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