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This book represents the first single volume in the English language dealing with procedures aimed at the accurate measuring of the female pelvis and the fetal head in utero. Because of the unreliability of the usual external pelvic measurements the obstetrical studies of recent years have tended to neglect this fundamental part of obstetrics. Indeed, until the advent of the Roentgen mensuratio...

Mutations in the DSL (Delta, Serrate, Lag2) Notch (N) ligand Delta-like (Dll) 3 cause skeletal abnormalities in spondylocostal dysostosis, which is consistent with a critical role for N signaling during somitogenesis. Understanding how Dll3 functions is complicated by reports that DSL ligands both activate and inhibit N signaling. In contrast to other DSL ligands, we show that Dll3 does not act...

To cite: Singla V, Vijayalakshmi IB, Singh B, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2013202323 DESCRIPTION A 2-year-old female presented with asymptomatic continuous murmur. Echocardiogram revealed patent ductus arteriosus (PDA). Chest roentgenogram (figure 1) incidentally showed scoliosis, hemivertebrae (seventh thoracic vertebrae), failure of fu...

Conjugated hyperbilirubinemia, posterior embryotoxon, and vertebral anomalies are not features of William syndrome (WS). We herein report a preterm infant who presented with features suggestive of Alagille syndrome, but microarray showed findings consistent with WS. This further extends the phenotype of WS and emphasizes the need for microarray analysis.

A case of Goldenhar Syndrome, in an adult male, with the typical triad of auricular appendages, epibulbar dermoid and vertebral anomalies is presented. The relevent literature is review. The differential diagnosis of this Syndrome from a few similar syndromes is stressed.

Although, Facio-auriculo-vertebral sequence (FAVS) is a well recognized condition with cranio-facial, ocular and vertebral anomalies, extreme variability of expression is characteristic. Association of cardiac, CNS, lungs, kidneys and limb defects are described. We report a neonatal case with FAVS in association with congenital hypoparathyroidism.