Angelman Syndrome

Today we counselled a mother at a Manhasset facility (New York) whose 18 months female kid’s chromosomal studies have confirmed Angelman Syndrome (happy puppet syndrome, thus use of this term is not encouraged now). Her face was not really dysmorphic, though striking features are: maxillary hypoplasia, deep set eyes, wide mouth with prognathism.

Initailly described by Dr Harry Angelman in 1965, this is a syndrome with deletion defect (15 p- and this is maternally contributed. Paternal contribution results in Prader Willi syndrome).

Other features:
Developmental delay, particularly speech (none or minimal words), movements: ataxia or tremulous gait.
Seizures with high probability around 4 years of age, resolve by 10 years.
Sleep disturbances, strabismus.

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