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- Title
The Genetics Corner: Hypophosphatasia.
- Authors
Hua Wang; Rajakumar, Nivedita; Ramanathan, Subhadra; Clark, Robin
- Abstract
The article focuses on infant born at 39 weeks gestation by scheduled primary Cesarean delivery to a young, healthy primigravida mother. Topics include reports that prenatal and postnatal genetics consultations were requested and the baby clinical examination and bone survey confirmed the prenatal diagnosis of the severe perinatal form of hypophosphatasia.
- Subjects
GENETICS; HYPOPHOSPHATEMIA; RIGHT ventricular hypertrophy; INBORN errors of metabolism diagnosis; ECHOCARDIOGRAPHY; ALKALINE phosphatase; PRENATAL diagnosis; AMNIOCENTESIS; CHEST X rays; GENETIC testing; TREATMENT effectiveness; OSTEOCHONDRODYSPLASIAS; METALS in the body; INBORN errors of metabolism; CESAREAN section; GENETIC counseling; FETAL ultrasonic imaging; RECOMBINANT proteins; TRACHEA intubation; DISEASE complications
- Publication
Neonatology Today, 2020, Vol 15, Issue 10, p99
- ISSN
1932-7129
- Publication type
Article
- DOI
10.51362/neonatology.today/202010151099103