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

36. Patellar dysostoses 12
Ischiopubic patellar dysplasia 3
Nail patella dysplasia 9
37. Brachydactylies (with or without extraskeletal manifestations) 14
Brachydactyly type E 3
Albright Hereditary Osteodystrophy 3
Poland syndrome 8
38. limb hypoplasia-reduction defects group 48
Fanconi anemia 1
Thrombocytopenia-Absent Radius (TAR syndrome) 8
Holt-Oram syndrome 3
Roberts syndrome 1
Split Hand-Foot malformation, isolated form 1
Split Hand-Foot malformation with tibial hypoplasia 2
Tibial hemimelia 5
Femoral hypoplasia-Unusual facies syndrome 1
Femur-Fibula-Ulna syndrome 26
39. Polydactyly-Syndactyly-Triphalangism group 7
Preaxial polydactyly 2
Preaxial polydactyly type 2 (PPD2)/Triphalangeal thumb (TPT) 1
Greig Cephalopolysyndactyly syndrome 2
Synpolydactyly 1
Mirror –image polydactyly of hands and feet (Laurin-Sandrow syndrome) 1
40. defects in joint formation and synostoses 11
Proximal Symphalangism type 1, 2 2
Radio-ulnar synostosis with amegakaryocytic thrombocytopenia 9
molecular disorders, and multiple congenital
anomalies syndromes is becoming progressively
less sharp, and the diagnostic
process requires knowledge that crosses
between these subspecialty areas.
The MIM catalogue contains many
more entries, such as multiple malformation
syndromes, that have some degree of
skeletal involvement. Emphasis has been
given to syndromes in which the skeletal
component is prominent and/or essential
to the diagnosis.
The Nosology should be useful for the
diagnosis of patients with genetic skeletal
diseases, particularly in view of the
information flood expected with the novel
sequencing technologies; in the delinea-
320 14 th Prague-Sydney-Lublin
tion of clinical entities and novel disorders,
by providing an overview of established
nosologic entities; and for scientists looking
for the clinical correlates of genes,
proteins and pathways involved in skeletal
biology.
The authors have own experience with
last 5 nomenclatures – it means with the 2 nd
revision in 1983 and the others (e.g. Mařík
et al. 2009). They introduce their diagnostic
experience in Table 1 where is classified
a cohort of congenital systemic defects
of locomotor apparatus diagnosed at the
Ambulant Centre for Defects of Locomotor
Apparatus in Prague in years 1994–2011
according to Nosology and Classification of
Genetic Skeletal Disorders: 2010 Revision.