Osteocraniostenosis in a fetus with a 46,XX/46,XY karyotype.
Osteocraniostenosis is a disorder characterized by thin tubular bones, dymorphic facies and splenic hypoplasia/aplasia in some cases. We report a further case of this rare skeletal dysplasia in a 31 week male fetus with ambiguous external genitalia and asymmetry in whom a 46,XX/46,XY karyotype was demonstrated in both cartilage and skin.
Brennan
Paul
P
Clinical Genetics Service, City Hospital, Nottingham, UK. paul_brennan6@hotmail.com
Hall
Christine
C
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics*; D012734:Disorders of Sex Development / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005313:Fetal Death; D005333:Fetus / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D011859:Radiography