Hi, my name is shilo. I'm from Portland
Oregon.<br>I have an 8 yr. old daughter who has stumped every
specialist across the country.<br>We were thought to have a
mucosaccharidoses disorder for the past few years, but she is
negative biochemically.<br>She has unusual
characteristics, and I've been on a determined search to find
someone who has similar characteristics to
Ashly.<br><br>She is short statured. 42 lbs and 42 inches and she
is almost 9. she has heart defects, sub-mucus cleft
palate. delays in speech and language, and severly
delayed academically. <br> these are her unusual
features:<br>Description of Ashly's hand abnormalities<br><br>camptodactyl
bilaterally of digits 2,3 and 4. a distal tapering
of<br>digits. especially thumbs digit #2,3, mild fifth digit
clinodactyl<br>present.<br>the metacarpals, metatarsals and the phalanges are
short and stubby, thickened and broadened, lowering and
trabeculation of bone structure<br>significient amount of
hypertrophy of the volar plate and volar capsule of
metatarsalphlangeal joints in all digits.<br>significient amount of
encroachment in a1,a2, pulleys<br>calcification of
superficialis insertion of index ginger, exised superficialis
insertion<br>abnormal organization of collagen forming around
tendons<br>abnormal accumulation of fibracollageneous
tissue<br>catilaginous growth plate has vacuolated chondrocytes<br>stiff
joints due to skeletal abnormalities<br>delayed bone age
ranging from 1-2 yrs.<br>femoral hip plate not covering
fully, 25% on left, 35-45% on right which contributes to
occasional hip or abdomen pops out of joint<br>kyphosis of
spine of upper thoraic region<br>complains of frequent
knee pain, has enlarged knobby joints<br>delayed motor
and other skills due to shortness of size, hand
deformity <br>multiple finger flexion contractures
bilaterally on all finger joints on both hands with
nodules<br>Short limbs,<br>inability to make a fist<br>short
hypoplastic fingernails<br><br>shilo