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Imaging Approach To Congenital Skeletal Dysplasia By Dr Sachin Ref: 1. Amaka C. Offiah, Christine M. Hall et al. Radiological diagnosis of the constitutional disorders of bone, Pediatr Radiol (2003)33: 153–161. 2. Manjiri Dighe et.al Fetal Skeletal Dysplasia: An Approach to Diagnosis with Illustrative Cases, RG , Volume 28, Number 4, 1061-77 3. Parilla et al. Antenatal Detection of Skeletal Dysplasias J Ultrasound Med 22:255–258, 2003.

Radiological approach to Congenital skeletal dysplasia

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  • 1. Ref:1. Amaka C. Offiah, Christine M. Hall et al. Radiological diagnosis of the constitutional disorders of bone, Pediatr Radiol (2003)33: 153161.2. Manjiri Dighe et.al Fetal Skeletal Dysplasia: An Approach to Diagnosis with Illustrative Cases, RG , Volume 28, Number 4, 1061-773. Parilla et al. Antenatal Detection of Skeletal Dysplasias J Ultrasound Med 22:255258, 2003. By Dr Sachin

2. Definitions Osteochondrodysplasias:- Abnormalities of bone and/or cartilagegrowth- Because of abnormal geneexpression, phenotypes continue to evolvethroughout lifespan Dysostoses :- Altered blastogenesis in first 6 weeks ofIU life- Phenotype fixed 3. International Classification of Osteochondrodysplasias, published in 2002 Classified-1. Osteochondrodysplasias - 33 groups(Groups 133)2. Dysostoses 3 (Groups AC)- A - predominantly craniofacial involvement- B - predominant axial involvement- C - predominant involvement of hands &feet 4. Imaging Approach : Antenatal US Long Bones:- Long bones lengths- Absence and malformation- Hypoplasia :Rhizomelia, Mesomelia, Rhizo-mesomelia, Acromelia- Curvature, degree of mineralization, andfractures- The femur lengthabdominalcircumference ratio (