Prenatal Diagnosis of Ectrodactyly in the First Trimester by Three-Dimensional Ultrasonography

Prenatal Diagnosis of Ectrodactyly in the First Trimester by Three-Dimensional Ultrasonography.

Introduction Ectrodactyly, also known as split hand/foot malformation, is a rare developmental abnormality of the limbs that consists of absent central digits, a deep median cleft, and fusion of the remaining lateral digits, ultimately producing clawlike extremities. This case represents one of the earliest reported diagnoses of this anomaly to utilize three-dimensional (3D) ultrasonography. Ca...

Prenatal diagnosis of pentalogy of cantrell with craniorachischisis by three-dimensional ultrasonography in the first trimester.

Ectrodactyly and prenatal diagnosis.

Ectrodactyly is an autosomal dominant ectodermal dysplasia presenting as bilateral congenital malformed hands and feet [1]. It affects about 1 in 90,000 births with males and females equally as likely to be affected. It is characterized by transverse terminal aphalangia or partial to total absence of the distal segments of fingers. It may involve one or more digits or the full hand and even par...

Prenatal Diagnosis of Penoscrotal Hypospadia in Third Trimester by Two- and Three-Dimensional Ultrasonography: A Case Report

Hypospadia is an abnormal development of the corpus spongiosum, that involves cavernosa urethra, as a result of an inadequate fusion of the urethral folds. The incidence ranges from 0.2 to 4.1 per 1,000 live births. Among the markers of hypospadia, isolated ventral or lateral curvature of the penis associated with shortening are the most important markers and, in severe cases, can result in the...

First trimester prenatal diagnosis of Menkes disease by DNA analysis.

Menkes disease is an X linked recessive disorder of copper metabolism characterised by neurological symptoms and connective tissue manifestations. The defective gene in Menkes disease has recently been isolated and the gene product is predicted to be a copper transporting ATPase. The diagnosis of Menkes disease has hitherto been performed by biochemical analysis, based on intracellular accumula...