UNDIAGNOSED THANATOPHORIC DYSPLASIA AT TERM- OBSTETRICIAN’S DILEMMA!!- A CASE REPORT
Journal Title: Journal of Evidence Based Medicine and Healthcare - Year 2017, Vol 4, Issue 13
Abstract
BACKGROUND Thanatophoric Dysplasia (TD) is a lethal skeletal dysplasia. Prenatal diagnosis of TD is usually accomplished by Ultrasonography (USG). However, it is not always possible to distinguish TD from other skeletal dysplasias by USG. Chromosomal analysis and DNA molecular testing can be done in suspected cases of TD. Differentiating known lethal disorders from nonlethal disorders before delivery and determining post-delivery management plans improves patient care. We report a case of TD undiagnosed till term and the dilemma faced due to difficulty in differentiating the lethal and non-lethal forms on ultrasonography.
Authors and Affiliations
Kshama Vivek Kedar, Monika Daulatrao Akare, Surekha Narayan Khandale
Keywords
Related Articles
- EP ID EP214122
- DOI 10.18410/jebmh/2017/145
- Views 86
- Downloads 0
HOCM DIAGNOSTIC DILEMMA
PRESENTATION OF CASE A 32 years old male, Type II diabetic patient was admitted in private nursing home in Mumbai in 2014 with h/o Chest Pain on exertion CCS class II, shortness of breath on exertion NYHA class II associ...
RED BLOOD CELL ABNORMALITIES IN DECOMPENSATED CHRONIC LIVER DISEASE (DCLD)
BACKGROUND: Liver plays an important role in normal erythropoiesis, especially in formation and destruction of RBC’s. Chronic liver diseases are frequently associated with hematological abnormalities. Anemia of diverge e...
ESTIMATION OF VITAMIN D LEVELS IN CHRONIC OBSTRUCTIVE PULMONARY DISEASE PATIENTS
BACKGROUND Vitamin D deficiency and osteoporosis is a common extra pulmonary manifestation in COPD patients. Evidence suggests that the prevalence of osteoporosis in patients with COPD is high and potentially important w...
MRI FINDINGS OF INTERNAL DERANGEMENT OF KNEE IN TRAUMA
AIMS AND OBJECTIVES: 1. To evaluate ligament and meniscal injuries and secondary signs, using MRI. 2. To analyse the types and grades of the tears. MATERIALS AND METHODS: MR imaging studies of knee was performed in 200 p...
CLINICOPATHOLOGICAL CHARACTERISTICS OF SOLITARY NODULE OF THYROID- A CROSS-SECTIONAL STUDY IN A TERTIARY CENTER
BACKGROUND Solitary Thyroid Nodules (STN) occur in 4-7% of the adult population. Owing to increasing incidence of malignancy, it is necessary to differentiate patients with benign STN from malignant ones for early interv...