The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome.
OBJECTIVE
To evaluate the growth disorder and phenotype in prepubertal children with Leri-Weill dyschondrosteosis (LWD), a dominantly inherited skeletal dysplasia, and to compare the findings from girls with Turner syndrome (TS).


METHODS
We studied the auxologic and phenotypic characteristics in 34 prepubertal LWD subjects (ages 1 to 10 years; 20 girls, 14 boys) with confirmed short stature homeobox-containing gene (SHOX) abnormalities. For comparative purposes, we evaluated similar physical and growth parameters in 76 girls with TS (ages 1 to 19 years) and 24 girls with LWD (ages 1 to 15 years) by using data collected from the postmarketing observational study, GeNeSIS.


RESULTS
In the clinic sample LWD subjects, height standard deviation score ranged from -5.5 to +0.1 (-2.3 +/- 1.3, girls and -1.8 +/- 0.6, boys). Wrist changes related to Madelung deformity were present in 18 of 34 (53%) LWD subjects. In comparing the LWD and TS populations in the GeNeSIS sample, Madelung deformity, increased carrying angle, and scoliosis were more prevalent in the LWD population, whereas high arched palate was similarly prevalent in the two populations.


CONCLUSIONS
Short stature is common in both LWD (girls and boys) and TS (girls). Clinical clues to the diagnosis of SHOX haploinsufficiency in childhood include short stature, short limbs, wrist changes, and tibial bowing.
Ross
Judith L
JL
Department of Pediatrics, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA.
Kowal
Karen
K
Quigley
Charmian A
CA
Blum
Werner F
WF
Cutler
Gordon B
GB
Crowe
Brenda
B
Hovanes
Karine
K
Elder
Frederick F
FF
Zinn
Andrew R
AR
D000293:Adolescent; D001827:Body Height / Q000235:genetics*; D001846:Bone Development / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics*; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D011859:Radiography; D000074122:Short Stature Homeobox Protein; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*; D014424:Turner Syndrome / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology
D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein; D014157:Transcription Factors