Langer mesomelic dysplasia

A rare disorder characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs.

Short metacarpal

Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.


合計: 1

                       


（表示件数）
PMID (PMCID)
11889214
 MIXED_SAMPLE Infant
SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features.
Ogata T, Muroya K, Sasaki G, Nishimura G, Kitoh H, Hattori T.
J Clin Endocrinol Metab. 2002;87(3):1390-4.
The results, in conjunction with the previous findings, suggest that mesomelic skeletal features such as Langer mesomelic dysplasia and LWDC, which are absent or rare in Turner syndrome, are primarily caused by the SHOX dosage effect and the bone maturing effect of gonadal estrogens, whereas other skeletal features such as short metacarpals, cubitus valgus, and various craniofacial and cervical skeletal stigmata, which are common in Turner syndrome, are largely contributed by a compressive effect of distended lymphatics and lymphedema on the developing skeletal tissues.