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Journal of Medical Genetics

Publication date: 1993-06-01
Volume: 30 Pages: 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.