Prenatal ultrasound findings of ectodermal dysplasia: a case report.

BACKGROUND: Ectodermal Dysplasia is a diverse group of inherited disorders characterized by a congenital defect in two or more ectodermal structures. Due to a fairly low incidence, to the best of our knowledge there are few clues that can assist in making an effective prenatal ultrasound diagnosis. Currently, the prenatal diagnosis of ectodermal dysplasia depends on a fetal genetic test combined with the family history. In this case report, we present a fetal case of ectodermal dysplasia with a remarkable prenatal ultrasound image, genetic testing, family history, and relevant exams of the stillbirth. CASE PRESENTATION: A multipara with a 22-week singleton male pregnancy undergoing a fetal ultrasound examination. The image showed a hypoplastic maxilla and mandible. Subsequently, the ectodermal dysplasia was defined using a family history and genetic testing. The skin pathology from the aborted fetus demonstrated a hypohidrotic type. The computed tomography (CT) reconstruction after induced labor confirmed the prenatal ultrasound findings of the maxilla and mandible. CONCLUSIONS: This case suggested that prenatal ultrasound may provide a valuable clue of ectodermal dysplasia. The diagnosis can be established using further prenatal genetic testing and a family history.

Prenatal ultrasound-assisted identification of multiple malformations caused by a deletion in the long-arm end of chromosome 7 and review of the literature.

Clinical cases of chromosome 7 long-arm end deletion are rare. Generally, 7q terminal deletion syndrome results in complex clinical phenotypes, such as microcephaly, growth and development retardation, holoprosencephaly, and sacral hypoplasia. Herein, we report the genetic and clinical features of a fetus with multiple malformations observed by prenatal ultrasound. The results showed that there was a large fragment deletion of approximately 27.7 Mb in 7q32.3-qter. The induced fetus showed facial abnormalities of cleft lip and palate, and some organ structural abnormalities (such as diaphragmatic hernia and polycystic renal dysplasia) were observed by autopsy and pathology. To provide more reliable information for disease diagnosis and genetic counseling, we reviewed and analyzed the reported cases of isolated 7q terminal syndrome.