Hi All,
I saw an funny looking kid today, the ped who referred him agrees that
he has some unusual features that may be markers for a cytogenetic
abnormality.  I'd like to run it by you all and see if anyone can
identify any possibilities:

retrognathia (small, recessed mandible)
severe bubble palate (high area behind the alveolar ridge)
wrinkly eyelids (three skin folds each on top and bottom lids,
bilaterally symmetrical, but does not seem to have microopthalmia (tiny
eyes))
triangular philtrum (the depression between the nose and upper lip)
hyperflexed wrists and ankles are hyper-dorsiflexed
single palmar horizontal crease, normal transverse crease
ears look slightly lowset, upper pinna is poorly curled (upper part of
ear looks too flat and comes out away from the head)
head is asymmetrically molded (no forceps)

Anyone who has seen any of these features, especially together, please
let me know what they turned out to signify.
TIA!

--
Catherine Watson Genna, IBCLC  New York City  mailto:[log in to unmask]

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