منابع مشابه
Prenatal diagnosis of hypophosphatasia congenita using ultrasonography
Congenital hypophosphatasia is a rare fatal skeletal dysplasia. Antenatal determinants of Epub ahead of print lethality include small thoracic circumference with pulmonary hypoplasia and severe micromelia. These features were present in the fetus of a 25-year-old female who came for an anomaly scan in her second trimester of pregnancy. Additional findings of generalized demineralization and ost...
متن کاملPrenatal Diagnosis of Severe Perinatal (Lethal) Hypophosphatasia
HPP is a clinically heterogeneous disease and classified into at least six forms according to severity and age of onset: perinatal (lethal), perinatal (benign), infantile (MIM [Mendelian Inheritance in Man] # 241500), childhood (MIM# 241510), adult (MIM# 146300), and odontohypophosphatasia (Mornet, 2008) (Table 1). All forms of HPP display reduced activity of unfractionated serum ALP and the pr...
متن کاملUse of Next-generation Sequencing for Prenatal Diagnosis of Hypophosphatasia
We report on a patient who had recurrent skeletal dysplasia in three of four of her pregnancies which all resulted in termination of pregnancies. The ultrasound and / or histological findings of her first and fourth pregnancy were suggestive of osteogenesis imperfecta while those in her second pregnancy were more suggestive of achondrogenesis. The exact diagnosis could not be made clinically at...
متن کاملPrenatal genetic diagnosis of severe perinatal (lethal) hypophosphatasia.
Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and a deficiency in tissue-nonspecific alkaline phosphatase (TNSALP) activity. This disorder is caused by various mutations of the TNSALP gene. We report here the prenatal diagnosis of the perinatal (lethal) type of hypophosphatasia in a sibling of an affected infant. The infant had been found to have hypop...
متن کاملPrenatal Diagnosis of Granular Cell Tumor
Congenital granular cell tumor (GCT) is a relatively rare intraoral benign tumor, approximately 200 cases of which have been reported in the neonatal period worldwide. The newborn infant may have feeding problems and respiratory difficulties due to airway obstruction. This lesion may be diagnosed by prenatal ultrasonography and simple resection is mostly required. We report a case of an adult t...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1978
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-197804001-00551