Opitz trigonocephaly syndrome and terminal transverse limb reduction defects.
In this report a male newborn with Opitz trigonocephaly syndrome is described. In addition to the typical dysmorphic stigmata, terminal transverse limb reduction defects were observed. Acral limb deficiencies have not been previously reported to be associated with this multiple malformation syndrome.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D005385:Fingers / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008831:Microcephaly / Q000150:complications; D009123:Muscle Hypotonia / Q000150:complications; D011859:Radiography; D013577:Syndrome; D014034:Toes / Q000002:abnormalities* / Q000000981:diagnostic imaging