Lethal acrofacial dysostosis, pre- and post-axial defects of the hands, and bilateral renal agenesis.
We report a female fetus with a previously undescribed form of mandibulofacial dysostosis with mesomelic limb abnormalities, pre- and post-axial defects of the hands, bilateral renal agenesis, bicornuate uterus, and a single umbilical artery.
Bates
A W
AW
Department of Histopathology and Morbid Anatomy, Institute of Pathology, The Royal London Hospital, UK. A.Bates@bartsandthelondon.nhs.uk
Hall
C M
CM
Morgan
H
H
Rosser
E M
EM
Scheimberg
I
I
D000015:Abnormalities, Multiple / Q000473:pathology*; D019465:Craniofacial Abnormalities / Q000473:pathology*; D005260:Female; D005333:Fetus / Q000002:abnormalities*; D006228:Hand Deformities, Congenital / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities*; D011247:Pregnancy