šta je to kampomelični sindrom?
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šta je to kampomelični sindrom?
Prekinula sam dve trudnoće zbog bolesti kostiju kod beba.Radi se o nekoj vrlo retkoj bolesti koja još nije dijagnostikovana kod nas.Kažu da se radi o OSI ili kampomelični sindrom ili hipofostatazija.Jedino se može videti na ultra zvuku da nešto nije u redu i to u 17. nedelji a sve ostale analize su normalne.Svi u porodici smo zdravi ali se padi o recesivnom tipu nasleđivanja a da stvar bude gora poslednja obdukcija je pokazala da nedostaje i par rebara i fibule ko zna šta još.Ne znam ništa o tom sindromu ni o hipofostataziji i ako nešto znate o ovome,POMOZITE.Unapred hvala!!!
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tamaraft
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- Pridružio se: Uto Mar 25, 2008 1:32 pm
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Vishe o pomenutom sindromu na ovim linkovima
http://children.webmd.com/campomelic-syndrome
http://archotol.ama-assn.org/cgi/conten ... /105/8/449
I koliko se secam u pitanju je dominantno nasledjivanje ove retke anomalije.
...Campomelic syndrome (or campomelic dysostosis, CD; MIM *114290) is an autosomal dominant skeletal malformation syndrome characterized by shortness and bowing of long bones, especially of the lower limbs. Additional radiological and clinical findings are 11 pairs of ribs and a bell-shaped thorax, hypoplastic scapulae, narrow iliac wings, non-mineralized thoracic pedicles, clubbed feet, Robin sequence, typical facial anomalies and tracheomalacia. The disorder is frequently lethal due to respiratory distress. Sex reversal occurs in most patients with an XY karyotype. CD is caused by heterozygous mutations in the SOX9 gene, an SRY-related gene at 17q24.3-q25.1 with pleiotropic effects on the skeletal and genital systems. In addition, cases with chromosomal rearrangements involving 17q have been described that are most likely caused by disturbing one or more cis-regulatory elements from an extended control region. Campomelia (bowed limbs) is seen in most but not all patients, defining a so-called acampomelic campomelic dysostosis (ACD). Half of the CD cases with 17q rearrangements have no or mild campomelia. Furthermore, campomelia is absent or only mildly present in a small subgroup of cases with a normal karyotype. We present a chromosomally normal boy with ACD and his clinical follow-up up to the age of 2 years, in whom a heterozygous SOX9 missense mutation (H165Y) was identified. A SOX9 missense mutation was published in two other patients with ACD. Although up to now a general genotype-phenotype correlation could not be established for CD, a correlation emerges for the ACD variant that needs further confirmation...
http://children.webmd.com/campomelic-syndrome
http://archotol.ama-assn.org/cgi/conten ... /105/8/449
I koliko se secam u pitanju je dominantno nasledjivanje ove retke anomalije.
...Campomelic syndrome (or campomelic dysostosis, CD; MIM *114290) is an autosomal dominant skeletal malformation syndrome characterized by shortness and bowing of long bones, especially of the lower limbs. Additional radiological and clinical findings are 11 pairs of ribs and a bell-shaped thorax, hypoplastic scapulae, narrow iliac wings, non-mineralized thoracic pedicles, clubbed feet, Robin sequence, typical facial anomalies and tracheomalacia. The disorder is frequently lethal due to respiratory distress. Sex reversal occurs in most patients with an XY karyotype. CD is caused by heterozygous mutations in the SOX9 gene, an SRY-related gene at 17q24.3-q25.1 with pleiotropic effects on the skeletal and genital systems. In addition, cases with chromosomal rearrangements involving 17q have been described that are most likely caused by disturbing one or more cis-regulatory elements from an extended control region. Campomelia (bowed limbs) is seen in most but not all patients, defining a so-called acampomelic campomelic dysostosis (ACD). Half of the CD cases with 17q rearrangements have no or mild campomelia. Furthermore, campomelia is absent or only mildly present in a small subgroup of cases with a normal karyotype. We present a chromosomally normal boy with ACD and his clinical follow-up up to the age of 2 years, in whom a heterozygous SOX9 missense mutation (H165Y) was identified. A SOX9 missense mutation was published in two other patients with ACD. Although up to now a general genotype-phenotype correlation could not be established for CD, a correlation emerges for the ACD variant that needs further confirmation...
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