Počet záznamov: 1
dysplázia kampomelická
SYS d055036 LBL 00000nx--j2200000---45-- 005 20240119201457.8 100 $a 20080101asloy0103----ba0 152 $b mesh 250 $a dysplázia kampomelická $x BL $x CF $x CI $x CL $x CO $x DG $x DH $x DI $x DT $x EC $x EH $x EM $x EN $x EP $x ET $x GE $x HI $x IM $x ME $x MI $x MO $x NU $x PA $x PC $x PP $x PS $x PX $x RH $x RT $x SU $x TH $x UR $x VE $x VI $8 slo 300 1-
$a 2009 $8 eng 330 1-
$a A congenital disorder of CHONDROGENESIS and OSTEOGENESIS characterized by hypoplasia of endochondral bones. In most cases there is a curvature of the long bones especially the TIBIA with dimpling of the skin over the bowed areas, malformation of the pelvis and spine, 11 pairs of ribs, hypoplastic scapulae, club feet, micrognathia, CLEFT PALATE, tracheobronchomalacia, and in some patients male-to-female sex reversal (SEX REVERSAL, GONADAL). Most patients die in the neonatal period of respiratory distress. Campomelic dysplasia is associated with haploinsufficiency of the SOX9 TRANSCRIPTION FACTOR gene. $8 eng 550 $3 sllk_un_auth*d010855 $Y Pierre Robin Syndrome $5 B $a Pierre Robinov syndróm 550 $3 sllk_un_auth*d010855 $Y Pierre Robin Syndrome $5 F $a Pierre Robinov syndróm 686 $a C05.660.142 686 $a C16.131.621.142 750 $a Campomelic Dysplasia $8 eng 801 -0
$a SK $b BA006 $c 20081218 801 -2
$a SK $b BA006 $c 20200128 980 $x M
Počet záznamov: 1