Journal of Medical Genetics
Publication date:
1993-06-01
Volume:
30
Pages:
525 -
DOI:
10.1136/jmg.30.6.525
Publisher:
BMJ Publishing Group
Author:
de Die-Smulders, CE
Droog, RP ; van Dijk, M ; Fryns, Jean-Pierre
Keywords:
Abnormalities, Multiple, Blepharophimosis, Female, Fetal Growth Retardation, Humans, Infant, Newborn, Nose, Syndrome, Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, 06 Biological Sciences, 11 Medical and Health Sciences, 3105 Genetics, 3202 Clinical sciences
Abstract:
A malformed female infant is described. In addition to cardiac, renal, and skeletal (rib) anomalies, severe intrauterine growth retardation and distinct facial dysmorphism were present. The question is raised whether this child represents a new syndrome.