Angelman's syndrome in infancy.
The authors report an 11-month-old patient with the clinical features of Angelman syndrome and a 15q11 x 2-12 chromosomal deletion, thus demonstrating that the clinical features may be present in infancy and so allow early diagnosis. The features included pronounced postnatal growth failure, delayed dentition and ossification of growth centers. Low amniotic fluid alpha-fetoprotein was noted at 16 weeks of gestation. Head MRI showed only generalized atrophy. Some affected patients have a genetic marker similar to the chromosomal deletion associated with Prader-Willi syndrome. The importance of awareness of the clinical symptoms of Angelman syndrome is discussed.
Yamada
K A
KA
Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110.
Volpe
J J
JJ
D002871:Chromosome Banding; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008831:Microcephaly / Q000175:diagnosis / Q000235:genetics*; D009460:Neurologic Examination; D013577:Syndrome