Results All patients had characteristic poikiloderma as well as thumb anomalies. They were born dysmaturely and presented with failure to thrive. Age at genetic diagnosis was 5y, 4y and 3y for P1, P2, P3. Osteopenia and abnormal metaphyseal trabeculation of bones were striking on the initial skeletal survey in all patients. Z-scores on DXA scan were -0.1, -1.1 and -1.2 for P1, P2, P3 respective...

OBJECTIVE The aim of this study was to perform a detailed tomographic analysis of the skull base, craniocervical junction, and the entire spine in seven patients with spondylocostal dysostosis syndrome. METHOD Detailed scanning images have been organized in accordance with the most prominent clinical pathology. The reasons behind plagiocephaly, torticollis, short immobile neck, scoliosis and ...

Tricho-dento-osseous syndrome (TDO), an uncommon form of ectodermal dysplasia is an autosomal dominant genetic disorder which is characterized by inherited defects in tissues arising from epithelial-mesenchymal interaction. Genetic studies have revealed that it is caused by mutation in the DLX3 gene. TDO presents with a great phenotypic heterogeneity and studies have suggested that this heterog...

Schimke immuno-osseous dysplasia is an autosomal recessive multisystem disorder caused by defects in SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1 gene (SMARCAL1). SMARCAL1 product is a helicase that has role in selective cellular proliferation. The disorder is characterized by spondyloepiphyseal dysplasia with short stature, nephropathy, T cell ...

Gastrointestinal stromal tumors are the most common primary mesenchymal tumors of the gastrointestinal tract accounting for 0.1%-3.0% of all gastrointestinal malignancies. The stomach is the most common site (60%) followed by the small bowel (30%-35%) particularly jejunum and ileum, colorectum (5%) and rarely affect esophagus and appendix. Most gastrointestinal stromal tumors arise sporadically...

Parry Romberg syndrome (PRS), also referred to as progressive hemifacial atrophy, facial hemiatrophy, or idiopathic was first described by C and M Romberg.1 It manifests in the two decades morphologically normal-born individuals. commonly affects one more dermatomes trigeminal nerve territory. has an early onset of ophthalmic neurological involvement a variable maxillo-facial cardiac involvemen...

Refractory epilepsy is common in practice of neurology. Dyke-Davidoff-Masson Syndrome (DDMS) is one among the syndromes associated with refractory epilepsy. We have come across a case of Dyke-Davidoff-Masson syndrome while investigating a case of refractory epilepsy. When cerebral hemi atrophy is associated with the radiological features of osseous hypertrophy of calvarium, hyper-pneumatisation...