--- In connectivetissueissues@y..., shilor1218 wrote:
> 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







Weil Marchesani syndrome..

Have your Dr. look into this syndrome.. Also have Optomatrist look
for dislocated lenses too... this is simalar to Marfins syndrome
please check their websites.. for more information..