Genitourinary tract tops the list of developmental anomalies – 30-40% of malformed individuals. These developmental anomalies comprise a diversity of abnormalities ranging from complete absence to aberrant location, orientation, shape, form, fusion, number and vascular attachments. Amongst these wide range of anomalies, fusion anomalies are not uncommon. Horseshoe kidney is the commonest fusion...

We describe a boy with severe hypotonia and minor facial anomalies with a terminal deletion of chromosome 2q (46,XY,del(2)(q37)). Comparison with previous cases in the literature indicates that this particular deletion results in infantile hypotonia, developmental delay, and minor craniofacial anomalies including frontal bossing and micrognathia. The absence of true malformations and few minor ...

A male infant was found to have bilateral exudative retinopathy at 6 months of age. A month later severe aplastic anaemia was diagnosed, eventually leading to the infant's death. Additional features of this seemingly new syndrome were intrauterine growth retardation, fine sparse hair, fine reticulate skin pigmentation, ataxia because of cerebellar hypoplasia, cerebral calcifications, extensor h...