Haspeslagh syndrome without severe mental retardation and pterygia?
An adult female is described with mild developmental delay, typical facies, dental anomalies, arachnodactyly and camptodactyly. In many respects she resembles four other patients described earlier, but differs in not having multiple pterygia, nor severe mental retardation. We suggest that this entity should be named Haspeslagh syndrome. The differential diagnosis is discussed.
van Bever
Y
Y
Institute of Human Genetics, University of Amsterdam, The Netherlands.
Hennekam
R C
RC
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000503:physiopathology*; D000293:Adolescent; D000328:Adult; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000503:physiopathology*; D009333:Neck / Q000002:abnormalities; D013577:Syndrome; D013960:Thyroid Function Tests