Prenatal diagnosis of acro-dermatoungual-lacrimal-tooth syndrome, a dominantly inherited ectrodactyly.
As part of an assessment for preeclampsia, a prenatal sonogram performed on a pregnant woman at 33 weeks 4 days' gestation showed ectrodactyly in all 4 fetal extremities. The woman's husband had a history of hand abnormalities but was unaware that his condition was genetic. His examination was notable for ectrodactyly, small, peg-shaped teeth, microretrognathia, nail dysplasia, and a history of lacrimal duct blockage in infancy, consistent with a diagnosis of acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome. Acro-dermato-ungual-lacrimal-tooth syndrome is inherited as an autosomal dominant condition. Many of the inherited ectrodactyly syndromes are now known to be due to mutations in the p63 gene. This case, in which a prenatal sonographic diagnosis of ADULT syndrome was made, illustrates the importance of following up on a history of paternal hand anomalies.
O'Brien
Karen E
KE
Department of Obstetrics and Gynecology, Women & Infants Hospital of Rhode Island, Providence 02905, USA.
Shorrock
Julie
J
Bianchi
Diana W
DW
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics; D000328:Adult; D005260:Female; D005385:Fingers / Q000002:abnormalities; D005799:Genes, Dominant; D006801:Humans; D011247:Pregnancy; D013577:Syndrome; D014034:Toes / Q000002:abnormalities; D016216:Ultrasonography, Prenatal