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Among them, 20 patients had characteristic hand anomalies, namely, extra ossification centers or bifid distal phalanx of the thumb with or without additional anomalies such as hypoplasic or low inserted triphalangeal thumbs and phalangeal dislocations.
Perturbations of TGF-β/BMP activity are almost invariably linked to a wide variety of clinical outcomes, i.e., skeletal, extra skeletal anomalies, autoimmune, cancer, and cardiovascular diseases.
Extra structural anomalies are also observed on temperature dependencies of the M O bond lengths, octahedral tilt angles and atomic displacement parameters, which are evidently caused with the temperature induced changes of spin configuration of Co3+ ions and coupled metal-insulator transition occurred in HoCoO3 HoCrO3 system.
However, an association between LSVC and extra-cardiac anomalies has not been documented.
In the variants of classical lissencephaly, extra-cortical anomalies are also present (total or subtotal agenesis of the corpus callosum and/or cerebellar hypoplasia).
In case reports and small series, the coexistence of a persistent left superior vena cava (LSVC) and extra-cardiac anomalies has been noted.
We investigated the association between LSVC and extra-cardiac anomalies in patients referred to our tertiary pediatric cardiology department between 1998 and 2005.
Cases with extra-cardiac anomalies were excluded from further analysis, leaving 2984 singletons and 154 twins with isolated CHD.
11 Cases known to occur with extra-cardiac anomalies (ie, congenital anomalies not of the cardiovascular system) are likely to have different aetiologies than cases with isolated CHD.
Jeune asphyxiating thoracic dystrophy (JATD) is a skeletal dysplasia characterized by a small thoracic cage and a range of skeletal and extra-skeletal anomalies.
This skeletal profile is shared by other skeletal dysplasias that are collectively known as short rib-polydactyly (SRP [MIM 208500, 611263, 613819, 615630, 266920, 615633, 613091, 269860, 614091, 615503]) syndromes and are differentiated clinically by the degree of severity of skeletal changes as well as the presence of extra-skeletal anomalies (2).
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