Hypophosphatasia: Nonlethal disease despite skeletal presentation in utero (17 new cases and literature review)

Biochemistry, Genetics and Molecular Biology

• Alkaline Phosphatase 100%
• Isoenzyme 100%
• Mineralization 80%
• Autosomal Recessive Inheritance 60%
• Autosomal Dominant Inheritance 40%
• Third Trimester Pregnancy 40%
• Proband 20%
• Rickets 20%
• Osteomalacia 20%
• Heterozygosity 20%
• Abdominal Circumference 20%
• Chest Circumference 20%

Keyphrases

• Hypophosphatasia 100%
• Non-lethal 100%
• Isoenzymes 41%
• Alkaline Phosphatase 41%
• Autosomal Recessive 25%
• Skeletal Mineralization 25%
• Autosomal Dominant 16%
• Third Trimester 16%
• Skeletal Disorders 16%
• Proband 8%
• Pediatric 8%
• Rickets 8%
• Osteomalacia 8%
• Prenatal Ultrasound 8%
• Heterozygosity 8%
• Long Bone 8%
• Lethality 8%
• Bowing 8%
• Abdominal Circumference 8%
• Lethal Outcome 8%
• Dentition 8%
• Dental Disease 8%
• Chest Circumference 8%
• In Utero Effects 8%

Medicine and Dentistry

• Hypophosphatasia 100%
• Diseases 100%
• Alkaline Phosphatase 41%
• Isoenzyme 41%
• Mineralization 33%
• Autosomal Recessive Inheritance 25%
• Third Trimester Pregnancy 16%
• Autosomal Dominant Inheritance 16%
• Bone Disease 16%
• Pediatrics 8%
• Heterozygosity 8%
• Lethality 8%
• Rickets 8%
• Fetus Echography 8%
• Osteomalacia 8%
• Dentition 8%
• Tooth Resorption 8%