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

This cohort of 619 probands includes 112
nosologic units that are categorized into
36 groups.
For classification purposes the disorders
are still identified by clinical features
and radiographic appearance that are
the basis for aspect of closely specialized
molecular genetic examinations.
key words: bone dysplasias, osteochondrodysplasias,
clinical and anthropological,
radiological and genetic diagnosis,
molecular genetics, classification
References
1. MARIK I, ZEMKOVA D, MARIKOVA A,
HUDAKOVA O, MYSLIVEC R, HYÁNKOVÁ E,
KOLÁŘ J. Diagnostics of systemic skeletal disorders
yesterday, today and tomorrow. Pohybové
ústrojí 16, 2009, č. 1–2 Suplement, p. 117–123.
2. SUPERTI-FURGA A, UNGER S. Nosology
and classification of genetic skeletal disorders:
2006 revision. Am J Med Genet A. 2007;
143(1):1–18.
3. WARMAN ML, CORMIER-DAIRE V, HALL
CH, KRAKOW D, LACHMAN R, LEMERRER M.
et al. Nosology and Classification of Genetic
Skeletal Disorders – 2010 Revision&. Am J Med
Genet A. 2011 May; 155A(5): 943–968.
aBSTRakT
ReCOGnized THRee GeneTiC
SkeleTal diSORdeRS (new
enTiTieS) – in THe CenTRe fOR
PaTienTS wiTH lOCOMOTOR
defeCTS
Marik Ivo, Marikova Alena, Hudakova Olga,
Zemková Daniela, Kuklik Miloslav, Vseticka Jan,
Petrasova Sarka, Kozlowski Kazimierz
ambul_centrum@volny.cz
Ambulant Centre for defects of Locomotor
apparatus, Prague, Czech Republic & Radiological
Department of Westmead NSW 2145, Sydney,
Australia
In last years three new entities were
diagnosed in the Centre for patients with
Locomotor Defects in Prague. These are:
1. Spondyloepiphysel dysplasia with metatarsal
shortening (formerly Czech dysplasia),
2. Severe mesomelic dysplasia in
two fetuses (associated with increased
neck translucency and tetralogy of
Fallot in one and cystic hygroma in the
other) and 3. A new form or a variant of
Spondylometaphyseal dysplasia type A4.
The paper is focused on pathognomonic
clinical and anthropological findings
and radiographic features of the Czech
probands.
1. The history of the 1 st described family
with Czech dysplasia was characterised
by weather-dependent articular pain.
The unique phenotypic features were
hypoplasia/dysplasia of one or two
toes, stature was normal. Peculiar radiographic
findings were hypoplasia of the
3rd and 4th metatarsals, platyspondyly
with rectangular shape of the lumbar
spinal canal, progressive narrowing of
the joint spaces and early synovial chondromatosis.
Finally, the condition was
inherited as a dominant trait (Marik
et al. 2004). Later was proved that the
R275C mutation in the COL2A1 gene
causes a specific type II collagen disorder
that was recently delineated as
Czech dysplasia (Hoornaert et al.).
2. Severe mesomelic dysplasia. Two stillborn
male sibling fetuses born to the
same parents had severe mesomelic
dysplasia documented at ultrasound
and confirmed by radiography and
autopsy. The 17-week-old fetus with
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