Experimental evidence that preaxial polydactyly and forearm radial deficiencies may share a common developmental origin

Preaxial polydactyly is a congenital hand anomaly predominantly of sporadic occurrence, which is frequently associated with abnormalities of the Sonic hedgehog signalling pathway. In experimentally induced preaxial polydactyly, radial aplasia is also frequently observed. To determine if there is a correlation between preaxial polydactyly and radial aplasia, we induced ectopic Sonic hedgehog signalling during chicken limb development with application of a smoothened-agonist (SAG) or retinoic acid. Application of SAG caused malformations in 71% limbs including preaxial polydactyly (62%) and forearm abnormalities (43%). Retinoic acid application induced malformations in 56% of limb including preaxial polydactyly (45%) and forearm abnormalities (50%). Radial dysplasia and ulnar dimelia were observed in both experimental conditions. We demonstrate that ectopic Sonic hedgehog signalling may cause both preaxial polydactyly and predictable forearm anomalies and that these conditions could potentially be classified as one embryological group. We propose a unifying model based on known models of ectopic Sonic hedgehog signalling.

Thrombocytopenia with absent radii (TAR) Syndrome in a male child: report of a rare case

Introduction: Thrombocytopenia with absent radii (TAR) Syndrome is a rare congenital defect presents with hypomegakaryocytic thrombocytopenia and bilateral radial aplasia and preserved thumb.Case presentation: A three and half year’s old male baby born out of non-consanguineous marriage with thrombocytopenia and bilateral absence of radius. Such type of anomaly has been previously reported in the children of a non- consanguineous marriage was few.Conclusions: Though rare incidence, all thrombocytopenia with any skeletal deformity cases in newborn or infancy to toddler age group must be thoroughly investigated to exclude TAR syndrome. Case is presenting here because of rarity.International Journal of Human and Health Sciences Vol. 02 No. 02 April’18. Page : 91-93

Radial, renal and craniofacial anomalies: Baller-Gerold syndrome

ABSTRACTthe baller-gerold syndrome is a rare syndrome with very few cases published in literature. craniosynostosis and radial aplasia are striking features, easy to diagnose. however, there are many differential diagnoses. often, the question raised is whether the baller-gerald syndrome is a distinct entity. we report a patient with findings of craniosynostosis and radial aplasia consistent with the diagnosis of the baller-gerold syndrome. genotypic heterogeneity could possibly underlie the phenotypic variability exhibited by these cases.