- am****tion e.g.
tibial or
radial aplasia malformation of limbs:
shortening (
micromelia,
rhizomelia or mesomelia), ectrodactyly, phocomelia, meromelia, syndactyly...
-
receptor 3 gene (FGFR3) that
results in a
disproportionately short stature,
micromelia and a head that
appears large in
comparison with the
underdeveloped portions...
-
condition radial hypoplasia (underdeveloped
radius bones) or
foreleg micromelia (small forelegs) and
related conditions known as
radial aplasia (absent...
-
Symptoms include megalocephaly,
external ear deformities,
dental caries,
micromelia,
hypoplastic bone deformities, hypogonadism,
hypochromic anemia with occasional...
-
diabetes Oligodactyly/missing
fingers Radius absent/abnormal
Rhizomelic micromelia (relatively
shorter proximal segment of the
limbs compared to the middle...
-
syndrome Lissencephaly Lordosis Macrocephaly Marfan syndrome Microcephaly Micromelia Microtia Monosomy 9p
Myasthenic syndrome Myelokathexis Nager's Syndrome...
- edema/hydropic look,
narrow chest with
pulmonary hypoplasia,
severely short limbs (
micromelia), and
extraskeletal characteristics (e.g., flat midface,
Pierre Robin...
- (microtia/anotia) Eyes -
Upwardly slanting eyelids Skeleton Short limbs (
micromelia)
Femurs - absent/abnormal
Fused bones of the
spine (sacrum and coccyx)...
-
joint stiffness, low-set posteriorly-rotated ears,
metatarsus valgus,
micromelia, myotonia,
narrow mouth, flat foot,
pursed lips,
short stature, skeletal...
- maturation. In
addition to this delay, the
disorder is
characterized by
micromelia (short or
undersized bones),
particularly of the
hands and feet, delay...