An apparently new acrocraniofacial syndrome with cranial nerve and visceral anomalies.
We report details of a neonate with cranial bone dysplasia, broad nasal bridge, microphthalmia, optic and olfactory nerve anomalies, pulmonary segmentation defects, polydactyly, abnormally positioned and shaped thumbs, absent mesentery to the gut and streak gonads. Review of the literature and relevant databases does not identify a likely diagnosis.
Hameed
R
R
Childrens Hospital, Birmingham, UK.
Bissenden
J G
JG
Webb
W R
WR
Cole
T R
TR
D000015:Abnormalities, Multiple; D003391:Cranial Nerves / Q000002:abnormalities*; D005145:Face / Q000002:abnormalities*; D005532:Foot Deformities, Congenital; D006228:Hand Deformities, Congenital; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome; D014781:Viscera / Q000002:abnormalities*