Naumoff short-rib polydactyly syndrome compounded with Mohr oral-facial-digital syndrome.
A stillborn baby boy had findings of severe constitutional dwarfism with short limbs, short ribs, and polydactyly that were consistent with Naumoff (type III) short-rib polydactyly syndrome. He also had additional congenital anomalies, including cleft palate, notching of the upper lip, small tongue with accessory sublingual tissue. These oral and pharyngeal anomalies were consistent with Mohr (type II) oral-facial-digital syndrome. We suggest the stillborn infant represented a compound of Naumoff short-rib polydactyly syndrome (SRPS-III) and Mohr oral-facial-digital syndrome (OFDS-II).
Young
L W
LW
Division of Pediatric Radiology, Loma Linda University Medical Center, California, USA.
Wilhelm
L L
LL
Zuppan
C W
CW
Clark
R
R
D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009958:Orofaciodigital Syndromes / Q000150:complications*; D012779:Short Rib-Polydactyly Syndrome / Q000150:complications*