Benign prenatal hypophosphatasia: a treatable disease not to be missed.
Pediatr Radiol
; 44(3): 340-3, 2014 Mar.
Article
em En
| MEDLINE
| ID: mdl-24145968
ABSTRACT
Prenatal bowing of the long bones is often associated with severe bone dysplasias. We report a child who presented marked bowing of the long bones at birth but showed a relatively benign postnatal course with spontaneous improvement of bowing. The fetal imaging showed normal skeletal mineralization and normal chest and abdominal circumferences despite the limb bowing and shortening. Decreased serum alkaline phosphatase activity and elevated urine phosphoethanolamine was biochemically evident, and compound heterozygous mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene were identified, which confirmed the diagnosis of a benign form of prenatal hypophosphatasia. Benign prenatal hypophosphatasia should be considered in the differential diagnosis of congenital bowing of the long bones.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doenças do Desenvolvimento Ósseo
/
Ultrassonografia Pré-Natal
/
Hipofosfatemia Familiar
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
Pediatr Radiol
Ano de publicação:
2014
Tipo de documento:
Article