Brittle Bones, Unbreakable Spirit: Osteogenesis Imperfecta: A Case Report.

Osteogenesis imperfecta (OI, Fragilitis Ossium or Brittle bone disease) is a group of rare inherited disorders with a broad spectrum of clinical and genetic variability. It is characterized by fragile bones that are prone to fracture often from mild trauma or with no apparent cause. People with OI are born with defective connective tissue or without the ability to make it, usually because of a deficiency of Type1 collagen. Incidence of OI is estimated to be one per twenty thousand live births. Eight types of OI can be distinguished. Most cases are caused by mutations in the COL1A1 and COL1A2 genes. We have reported a special case of OI, probably belonging to Type III group. The subject visited the PMR (Physical Medicine & Rehabilitation) OPD of Bankura Sammilani medical college (BSMC), Bankura ,West Bengal, India.. The details of etiology, diagnosis, genetic causes and treatment will be discussed in the study. Diagnosis of OI is based on clinical features and may be confirmed by collagen or DNA testing. There is no cure for OI. Our management is aimed at increasing over all bone strength to prevent fracture and maintain mobility. Nevertheless, life style modifications by adaptive equipments, oral drugs (Bisphosphonates) and Intramedullary rod insertions, provide a significant degree of autonomy to OI patients.

Medical Mystery: Ectrodactyly A Case Report.

Congenital absence of all or part of one ormore fingers or toes is defined as Ectrodactyly. It is the word derived from Greek ektromameaning “abortion” and dactylymeaning digits. Also called split hand or footmalformation (SHFM), Ectrodactyly is a rare limb malformation with median cleft of hand and foot and aplasia or hypoplasia of the phalanges, metacarpals andmetatarsals. Irregular pattern of inheritance exists for ectrodactyly;may be autosomal dominant, autosomal recessive or X linked. In this condition, themedian cleft of the hand gives the hand, the appearance of lobster claws- so also called ‘Lobster Claw Hand”. Ectrodactylymay be very commonly associated with other anomalies of face, eyes and skeletal system. We report a rare case of unilateral ectrodactyly of right hand .The present case is not associated with any other anomaly as described in various textbooks and reference articles. The details of etiology, diagnosis, genetic causes, association with other anomalies and treatment will be discussed.