3+4+Supplementum/2012 - Společnost pro pojivové tkáně

increased neck translucency had additional
heart and great vesel anomalies
consistent with tetralogy of Fallot. The
15-week-old fetus had a nuchal cystic
hygroma.We posit that these sibs have
a distinct, previously unreported skeletal
dysplasia. The mode of genetic
transmission could be autosomal recessive
or X-linked recessive (Všetička et
al. 2010).
3. SMD type A4 (SMDTA4) is characterized
by severe changes of the femoral
neck, marked metaphyseal abnormalities
and ovoid, flattened vertebral bodies
with an anterior tongue-like deformity
(Maroteaux and Spranger 1991;
Duetting et al. 1998). In addition to
classical SMDTA4 characteristics, our
patient has progressive scoliosis and
lack of ossification of the capital femoral
epiphyses at the age of 11 years.
A genetic defect that cause SMDTA4 is
so far unknown (Marik et al. 2012).
The lecture is documented by authentic
photos and X-rays.
References
1. DUETTING T, SCHULZE A, TROEGER J,
SPRANGER J (1998) A rare form of spondylometaphyseal
dysplasia-type A4. Am J Med Genet
78, p. 61–66.
2. HOORNAERT KP, MARIK I, KOZLOWSKI
K, COLE T, LE MERRER M, LEROY JG, COUCKE
P, SILLENCE D, MORTIER GR. Czech dysplasia
metatarsal type: another type II collagen disorder.
European Journal of Human Genetics 15,
2007, p. 1269–1275
3. KOZLOWSKI K, MARIK I, MARIKOVA
O, ZEMKOVA D, KUKLIK M. Czech dysplasia
metatarsal type. Am J Med Genet, 2004, 129A,
p. 87–91.
322 14 th Prague-Sydney-Lublin
4. MARIK I, MARIKOVA O, ZEMKOVA D,
KUKLIK M, KOZLOWSKI K. Dominantly inherited
progressive pseudorheumatoid dysplasia
with hypoplastic toes. Skeletal Radiol 33, 2004,
p. 157–164.
5. MARIK I, HUDAKOVA O, PETRASOVA
S, KUSZEL L, CZARNY-RATAJCZAK M,
KOZLOWSKI K. A new form or a variant of SMD
type A4. J Appl Genetics, 2012.
6. MAROTEAUX P, SPRANGER J (1991) The
spondylometaphyseal dysplasias. A tentative
classification. Pediatr Radiol 21:293–297.
7. VSETIČKA J, GATTNAROVA Z, MARIK I,
KOZLOWSKI K. Ultrasound diagnosis of severe
mesomelic dysplasia in two fetuses, associated
with inreased neck translucency and tetralogy
of Fallot in one and cystic hygroma in the other.
Am J Med Genet Part A, 152A, 2010, 4, p. 815–818.
aBSTRakT
COllaGen. a TRiP TO THe
BeGinninGS Of THe aniMal
eVOluTiOn.
Zemkova Daniela, Hudakova Olga, Petrasova Sarka,
Sormová Lucie, Kuklik Miloslav, Marik Ivo
Dept. of Paediatrics; University Hospital Motol;
Charles University
Ambulant Centre for defects of Locomotor
apparatus, Prague, Czech Republic
Osteogenesis imperfecta (OI) is the
most frequent inborn disease within the
group of collagenopathies. The main characteristic
sign of OI is increased bone fragility.
It is caused by mutations in COL1A1
gene of type I collagen in most cases.
Spondyloepiphyseal dysplasia congenita,
Kniest dysplasia, Spondyloperipheral dysplasia,
Spondyloepiphyseal dysplasia with
metatarsal shortening (formely Czech dys-