Osteocraniostenosis in a fetus with a 46,XX/46,XY karyotype
1Clinical Genetics Service, City Hospital, Nottingham, UK. paul_brennan6@hotmail.com
Clinical Dysmorphology
|February 2, 2002
Abstract:
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.
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