Premium
Prenatal sonographic features of dyssegmental dysplasia Rolland‐Desbuquois type
Author(s) -
Wax Joseph R.,
Albanese Julie,
Smith Rosemarie,
Pinette Michael G.,
Chard Renee,
Cartin Angelina
Publication year - 2011
Publication title -
journal of clinical ultrasound
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.272
H-Index - 61
eISSN - 1097-0096
pISSN - 0091-2751
DOI - 10.1002/jcu.20868
Subject(s) - medicine , dysplasia , prenatal diagnosis , pathology , prenatal ultrasound , fetus , pediatrics , pregnancy , genetics , biology
Dyssegmental dysplasia is a rare, lethal, autosomal‐recessive disorder characterized by severe camptomicromelia and anisospondyly. We describe the prenatal sonographic findings in an index case of the Rolland‐Desbuquois type, with the diagnosis made by neonatal skeletal survey. Recognition of the unique vertebral disorganization may be used to prenatally distinguish dyssegmental dysplasia from other severe short‐limbed conditions. © 2011 Wiley Periodicals, Inc. J Clin Ultrasound, 2011;