240. Trevor’s disease ?

Trevor’s disease is also known as dysplasia epiphysealis hemimelica, asymmetric limb deformity due to cartilaginous overgrowth of a tarsal or carpal bone, less often other bones.

This disorder is rare, and is characterised by an asymmetrical limb deformity due to localized overgrowth of cartilage, histologically resembling osteochondroma believed to affect the limb bud in early fetal life. The condition occurs mostly in the ankle or knee region and it is always confined to a single limb. This usually involves only the lower extremities and on medial side of the epiphysis. It is named after researcher David Trevor.

Qn 241.What is Darier-White disease ?

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239. Weaver syndrome

Congenital disorder associated with rapid growth beginning in the prenatal period, unusual

craniofacial appearance, hoarse and low-pitched cry, and hypertonia with camptodactyly.
Occasionally has mutations in NSD1 (which is same mutation in Sotos syndrome).

238. Alagille syndrome

Inherited cholestatic syndrome, associated with biliary hypoplasia (ductopenia), vertebral

anomalies, prominent forehead, deep-set eyes, peripheral pulmonic stenosis. Autosomal dominant,
associated with mutation in JAG1 or NOTCH2.

237. Sjögren Syndrome

Sjögren syndrome is a clinicopathologic entity characterized by dry eyes (keratoconjunctivitis sicca) and dry mouth (xerostomia), resulting from immune-mediated destruction of the lacrimal and salivary glands. It occurs as an isolated disorder (primary form), also known as the sicca syndrome, or more often in association with another autoimmune disease (secondary form). Among the associated disorders, RA is the most common, but some patients have SLE, polymyositis, systemic sclerosis, vasculitis, or thyroiditis.

236. Malignant hyperthermia

Malignant hyperthermia is a rare clinical syndrome characterized by a dramatic hypermetabolic state (tachycardia, tachypnea, muscle spasms, and later hyperpyrexia) triggered by anesthesia, usually involving halogenated inhalational agents and succinylcholine; mutations have been identified in genes encoding calcium channels.