@entity2321 is the term used to describe a group of rare @entity154 characterized by abnormal development of 1 or several ectoderm-derived tissues. At least 154 different types, divided into 11 clinical subgroups, have been recognized. Among them, the @entity3796 is the most common form, with an incidence of 1 per 10,000 to 1 per 100,000 live births. This condition, originally known as @entity2321 because of the notable reduction of sweat gland function, is clinically characterized by @entity3797 , @entity3798 , and @entity2651 . Most cases are inherited as an @entity1112 , with the gene responsible being mapped to Xq12-q13.1. The autosomal recessive and dominant patterns of inheritance have also been documented. Prenatal diagnosis of this condition has been reported previously in high-risk pregnancies on the basis of histologic analysis of fetal skin obtained by second-trimester fetoscopy-guided skin biopsy. DNA-based linkage analysis has also made the diagnosis possible with the use of chorionic villi in the first trimester. In this report, we describe noninvasive prenatal diagnosis of @entity3796 in a pregnancy at risk for this condition. The diagnosis was achieved by identification of the distinct facial features at 30 weeks' gestation on three-dimensional (3D) ultrasonography.

XXXX : prenatal diagnosis by three-dimensional ultrasonography.

@entity154 :: ('MESH:D000013', 'Disease') :: ['congenital anomalies'] @entity3798 :: ('MESH:D007039', 'Disease') :: ['hypotrichosis'] @entity2651 :: ('MESH:D000848', 'Disease') :: ['hypodontia'] @entity1112 :: ('MESH:D040181', 'Disease') :: ['X-linked recessive trait'] @entity3796 :: ('MESH:D053358', 'Disease') :: ['hypohidrotic type', 'hypohidrotic ectodermal dysplasia'] @entity2321 :: ('MESH:D004476', 'Disease') :: ['Ectodermal dysplasia', 'anhidrotic ectodermal dysplasia'] @entity3797 :: ('MESH:D007007', 'Disease') :: ['hypohidrosis']
@entity3796 :: (MESH:D053358,Disease) :: ['Hypohidrotic ectodermal dysplasia']
