A novel syndrome with dwarfism, poorly muscled build, absent clavicles, humeroradial fusion, slender bones, oligodactyly and micrognathia. Clin Dysmorphol 2001;10:181-4.
[chu-montpellier.fr]
clavicles AD RUNX2/CBFA gene mutation (regulates OB differentiation) Coxa vara Short middle phalanges frontal bossing Morquio, Hurler, Sanfillippo, Hunter AR, AR,AR, X-linked
[quizlet.com]
Califlower ear Hitchhikers thumb Cervical kyphosis Genu valgum Skewfoot (Serpentine or Z foot) Form of disproportionate dwarfism AD COL2A1 joinst stiffness dumbbell femora Absent
[quizlet.com]