1+2/2010 - Společnost pro pojivové tkáně

EXOMPHALOS – MAKROGLOSSIA –GIGANTISMUS SYNDROME(WIEDEMANN. BECKWITHSYNDROME)Kuklík M., PragueIncidence of Beckwith – Wiedemannsyndrome is about 1:15 000 births.Beckwith – Wiedemann syndrom (EMG)is congenbital overgrowth syndrome withvariable expression. Syndrome is characterizedmajor features: exomphalos, makroglossiaand overgrowth. Gigantism isnot necessarily at birth. Many of theseinfants are born prematurely.Their chromosomal locus of the geneticdetermined syndrome has been assignedto 11p15.5.Methodology – we conducted stomatological,genetic and pediatric study to clarifymajor and minor diagnostic characteristicand longterm observation. Carefullfamily history complete with parental birthweigths and neonatal histories areimportant. Adults have few manifestationof the syndrome.We present there longitudinal study of15 families with occurence of the EMG –BWS. In the range 30 eyars indicate previouslyisolated (13 sporadic) incidenceand in the minority of the cases familiarcryptic incidence – 2. The familiar incidencedis without hemihypertrophy.All of the patientsw werte indicated topartial anterior glossectomy, but operatedwere only 5 patients. We noted hemihypertrophyof the tongue – mild right sidedand severe left sided. Sex ratio is not different,without sex preference: 8 males and7 females were affected. This was notedneonatal death in 1 female case (neonatallethality in early infancy).Karyotype with high resolution techniqueat the probands, their parents andtheir siblings including prenatal diagnosticwere provided. Only 1 case with large deletionof short armns 11 p – was detected.The pedigree examination indicatesignificant tumorous anamnesis in theantecedence at 5 families. Diabetes mellituswas noted in all families. In 1 familywe detected median cleft palate as associatedsign.There were prenatal diagnosticmethods after preconceptional carewith the amniocenthesis and sonographyapplicated at 3 families, obligatory withthe physiologic findings. There were allchildrens after births and later at followingtime healthy.Together 13 isolated cases were previouslywith hemihypertrophy associated –11 cases.Another cases are macrosomic childwithout lateral predilection including2 familiar cases too.Poznámka: V diskusi rozebíránas rakouskými kolegy především problematikaskolioz u BWS.ÚRAZY PÁTEŘE U DĚTÍA MLÁDEŽEPopko J., BialystokJedná se především o vysokoenergetickéúrazy. Autoři prezentovali vlastní zkušenostise 48 pacienty - 20 děvčat a 28chlapců ve věku od 3 do 18 let, stupeňpoškození podle tzv. Frankelovy škály,způsoby léčby konzervativní i operativní,která byla nutná v 10 případech. Nejčastějšíurazy vyžadující operativu jsou v thorakolumbálníoblasti. Indikací k operacijsou především neurologické komplikace.POHYBOVÉ ÚSTROJÍ, ročník 17, 2010, č. 1+2 135