Premium
Prenatal ultrasound diagnosis of frontonasal dysplasia
Author(s) -
Martinelli Pasquale,
Russo Rosa,
Agangi Annalisa,
Paladini Dario
Publication year - 2002
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.287
Subject(s) - hypertelorism , hemimegalencephaly , medicine , agenesis of the corpus callosum , agenesis , prenatal diagnosis , dysplasia , craniofacial , holoprosencephaly , anatomy , osteochondrodysplasia , in utero , corpus callosum , cortical dysplasia , pregnancy , fetus , pathology , magnetic resonance imaging , radiology , genetics , psychiatry , biology
We report a case of prenatal ultrasound diagnosis of frontonasal dysplasia. This represents a very rare disorder involving the face (hypertelorism, median cleft lip, absence of the nasal tip) and often the central nervous system (CNS) (cranium bifidum occultum, ethmoidal cephalocele, agenesis of the corpus callosum). Although several of the typical anomalies are diagnosable by ultrasound in utero (hypertelorism, median cleft lip, anterior cephalocele), very few cases have been reported prenatally, the present being only the third. In the present case, hemimegalencephaly is first reported among the anomalies possibly associated with frontonasal dysplasia. The diagnosis was made at 22 weeks' gestation and was confirmed by necropsy following termination of pregnancy. Copyright © 2002 John Wiley & Sons, Ltd.