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Variable presentation between a mother and a fetus with Goltz syndrome
Author(s) -
Sellars Elizabeth A.,
Wusik Katie,
Weaver K. Nicole,
Hopkin Robert J.
Publication year - 2013
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.4216
Subject(s) - presentation (obstetrics) , prenatal diagnosis , medicine , fetus , case presentation , affect (linguistics) , pediatrics , variable expression , organ system , pregnancy , obstetrics , psychology , pathology , surgery , biology , genetics , disease , communication , gene
What's already known about this topic? Goltz syndrome is a rare and variable X‐linked dominant condition that can affect a number of organ systems. Most patients have no family history of Goltz syndrome indicating that new mutations are relatively common.What does this study add? This case demonstrates the importance of considering Goltz syndrome in family members even when the symptoms are mild. This degree of variation between mother and child with a prenatal diagnosis has rarely been described. This is also the first report focused on prenatal diagnosis, which allowed a thoughtful, patient‐centered approach to prenatal and postnatal management.