Absent thumb, immune disorder, and congenital anemia presenting with hydrops fetalis.
A patient is described who presented with severe congenital anemia, hydrops fetalis, immune disorder, and absent thumbs. No toxic, infectious, or metabolic cause was found to explain these symptoms. Immunologic and cytogenetic studies excluded several syndromes that combine radial ray anomalies with hematological involvement. After careful study of the literature, it is concluded that the disorder described here represents a new syndrome that can be added to a growing list of hematological-radial syndromes.
Semmekrot
B A
BA
Department of Pediatrics, University Hospital, Nijmegen, The Netherlands.
Haraldsson
A
A
Weemaes
C M
CM
Smeets
D F
DF
Geven
W B
WB
Brunner
H G
HG
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000740:Anemia / Q000151:congenital*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D015160:Hydrops Fetalis / Q000235:genetics*; D007154:Immune System Diseases / Q000235:genetics*; D007231:Infant, Newborn; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities*