title: Approach to the diagnosis of skeletal dysplasias: Experience at a center with limited resources.
abstract: OBJECTIVE
  A fetus with skeletal disorder poses diagnostic challenges in a resource-poor setting with limited management options. The objective of the study was to develop a step-by-step approach for the diagnosis of skeletal dysplasia in light of the limited resources available.
  
  
  METHODS
  An algorithmic approach was used. The assessment for lethality was the first step, followed by the evaluation for fractures. In cases without evidence of fracture, severe constriction of thorax or associated polydactyly were searched for. In cases without severe thoracic constriction, the severity of micromelia was evaluated. After delivery, fetal examination was done to ascertain the etiology.
  
  
  RESULTS
  During the 6-year period, 41 cases with shortened long bones were fully evaluated. Lethality was suspected in 30 cases. Fracture and beading were present in eight cases, and severe thoracic constriction with polydactyly was observed in seven cases. Mild micromelia was seen in 19 cases and severe micromelia in 7 cases. Among lethal skeletal dysplasias, thanatophoric dysplasia was most common (six cases). Among nonlethal skeletal dysplasias, achondroplasia was seen in eight cases.
  
  
  CONCLUSIONS
  Lethality of skeletal dysplasia could be predicted on prenatal ultrasound with 100% accuracy. The step-by-step approach was helpful to characterize skeletal dysplasias. © 2016 Wiley Periodicals, Inc. J Clin Ultrasound 44:529-539, 2016.
authors.affiliation: Department of Obstetrics and Gynaecology, Lady Hardinge Medical College, Bhagat Singh Marg, New Delhi, 110001, India. manishaonly@gmail.com.
authors.forename: Manisha
authors.initials: M
authors.lastname: Kumar
authors.affiliation: Genetics, Fortis La Femme, GK II, New Delhi, India.
authors.forename: Seema
authors.initials: S
authors.lastname: Thakur
authors.affiliation: Department of Obstetrics and Gynecology, Lady Hardinge Medical College, Bhagat Singh Marg, New Delhi, 110001, India.
authors.forename: Arunima
authors.initials: A
authors.lastname: Haldar
authors.affiliation: Department of Radiodiagnosis, Lady Hardinge Medical College, Bhagat Singh Marg, New Delhi, 110001, India.
authors.forename: Rama
authors.initials: R
authors.lastname: Anand
mesh_terms: D000465:Algorithms; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging* / Q000196:embryology* / Q000401:mortality; D005260:Female; D006295:Health Resources; D006801:Humans; D011247:Pregnancy; D015203:Reproducibility of Results; D016216:Ultrasonography, Prenatal / Q000379:methods*
keywords: bones; micromelia; prenatal diagnosis; skeletal dysplasia; sonographic