Moderated by: Dr. Ajay Shukla Presented by: Dr. Nihit Jain

Approach to skeletal dysplasias

Presented by: Dr. Nihit Jain

Greek word: Dys disordered and Plassein to forma/k/a Osteochondrodysplasias.heterogeneous group of disorders comprising of abnormalities of bone or cartilage growth or texture.Occur due to genetic mutations.Overall prevalence - 2.3 7.6 per 10000 births.Disproportionate short stature, failure of linear growth, other physical deformities.Appropriate diagnosis: Clinical & family history, physical examination, radiological examination, molecular, & biochemical tests.

Skeletal Dysplasia

Dysplasia v/s dysostosesDysplasia Disorders with generalized abnormality of the skeleton.Phenotype continues to evolve throughout the life.

DysostosisDisorders with abnormality of a single or multiple bones.Phenotypically remains static throughout the life.

Over the past 30 years, the classification of skeletal dysplasia has evolved from one based on clinical-radiologic-pathologic features to one that includes the underlying molecular abnormality for conditions in which the genetic defect is known.

In 1977, the European Society of Pediatric Radiology adopted the international nomenclature of constitutional-intrinsic bone disease.

This nomenclature was modified in 1983, 1997, and 2001. The major change in 2001 was the addition of genetic dysostoses-osteochondro-dysplasias.

Skeletal dysplasias are caused by widespread disturbance of bone growth, beginning during the early stages of fetal development and evolving throughout life due to active gene involvement. The five original categories have been expanded to 32 groups.

International Classification of Osteochondrodysplasias, published in 2002 classified: Osteochondrodysplasias - 33 groups (Groups 133) Dysostoses 3 (Groups AC) A - predominantly craniofacial involvementB - predominant axial involvementC - predominant involvement of hands & feet

Diagnostic approach

DwarfismProportionateDisproportionateSymmetrical decrease in both trunk & limb Short trunk varietyShort limb varietyRhizomelia(Proximal part)Mesomelia(Middle part)Acromelia(Distal part)Micromelia(entire limb)

Antenatal diagnosisLong BonesChestHands & FeetSkullSpine & Pelvis- Long bones lengthAbsence & malformationHypoplasiaCurvature, degree of mineralization, fracturesFemur lengthabdominal circumference ratio (