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Abstract
The authors report a 9-year-old girl with mid-facial hypoplasia, maxillary hypoplasia,
prognathia, microbrachycephaly, mouth opening and protruding tongue. She also had
psychomotor retardation such as mental retardation and speech delay. Frequent laughter
fits and seizure disorder was also noted. Although the high resolution chromosome
study failed to demonstrate any deletion of chromosome 15q, the clinical picture was
compatible with Angelman syndrome. Breast development at the age of six and rapid
progression of bone age was noted at follow up. After a series of examinations, the
diagnosis of gonadotropin-dependent precocious puberty was made. MRI of brain revealed
an intermediate cyst in the pituitary gland and slightly enlarged pineal gland. However,
serum α-fetoprotein and β-HCG were undetectable and the size of the pineal gland remained
the same at the 1-year follow-up. She was treated with long-acting GnRH analogue and
valproic acid. The combination of precocious puberty and Angelman syndrome has not
been reported before and such association needs further experience for clarification.
Keywords
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Reference
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Article info
Publication history
Accepted:
December 11,
1993
Received:
September 10,
1993
Identification
Copyright
© 1994 Elsevier Science B.V. All rights reserved. Published by Elsevier Inc.
