Prenatal diagnosis of thanatophoric dwarfism

Thanatophoric dwarfism is a rare malformation, occurring in less than 1:10,000 pregnancies. It can be discovered by standard ultrasound examination, but other skeletal dysplasias such as achondroplasia, achondrogenesis and polydactyly syndromes must be taken into consideration. Sonographic findings...

Full description

Saved in:

Bibliographic Details
Published in:	Ultraschall in der Medizin Vol. 13; no. 1; p. 41
Main Authors:	Gerihäuser, H, Schuster, C, Immervoll, H, Sochor, G
Format:	Journal Article
Language:	German
Published:	Germany 01-02-1992
Subjects:	Adult Female Femur - pathology Humans Infant, Newborn Lung - pathology Pregnancy Pregnancy Trimester, Third Thanatophoric Dysplasia - diagnostic imaging Thanatophoric Dysplasia - pathology Ultrasonography, Prenatal
Online Access:	Get more information
Tags:	Add Tag No Tags, Be the first to tag this record!

Description
Summary:	Thanatophoric dwarfism is a rare malformation, occurring in less than 1:10,000 pregnancies. It can be discovered by standard ultrasound examination, but other skeletal dysplasias such as achondroplasia, achondrogenesis and polydactyly syndromes must be taken into consideration. Sonographic findings are polyhydramnia, narrow chest, symmetric tetramicromelia and macrocephaly. Macrocephaly might cause a problem for vaginal delivery. The narrow chest with secondary lung hypoplasia determines the infaust prognosis.
ISSN:	0172-4614
DOI:	10.1055/s-2007-1006016