Literature DB >> 12164578

Prenatal diagnosis of acro-dermatoungual-lacrimal-tooth syndrome, a dominantly inherited ectrodactyly.

Karen E O'Brien1, Julie Shorrock, Diana W Bianchi.   

Abstract

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.

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Year:  2002        PMID: 12164578     DOI: 10.7863/jum.2002.21.8.921

Source DB:  PubMed          Journal:  J Ultrasound Med        ISSN: 0278-4297            Impact factor:   2.153


  2 in total

1.  Severe persistent nasolacrimal duct obstruction: a typical finding in ADULT syndrome.

Authors:  N Eter; K Zerres; P Propping; P Roggenkämper; M Spitznas
Journal:  Br J Ophthalmol       Date:  2006-09       Impact factor: 4.638

2.  ADULT Phenotype and rs16864880 in the TP63 Gene: Two New Cases and Review of the Literature.

Authors:  Tânia Kawasaki de Araujo; Elaine Lustosa-Mendes; Ana P Dos Santos; Miriam Coelho Molck; Roberta Mazzariol Volpe-Aquino; Vera L Gil-da-Silva-Lopes
Journal:  Mol Syndromol       Date:  2017-04-13
  2 in total

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