PMID- 24790304
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20140505
LR  - 20211021
IS  - 0918-5739 (Print)
IS  - 1347-7358 (Electronic)
IS  - 0918-5739 (Linking)
VI  - 14
IP  - 1
DP  - 2005
TI  - Longitudinal Observation of a Patient with Leri-Weill Dyschondrosteosis and SHOX 
      Haploinsufficiency.
PG  - 11-6
LID - 10.1297/cpe.14.11 [doi]
AB  - Haploinsufficiency of the short stature homeobox-containing (SHOX) gene causes 
      Turner skeletal features, a certain proportion of idiopathic short stature and 
      Leri-Weill dyschondrosteosis (LWD). Here we report a Japanese female with LWD. 
      Her physical growth, skeletal deformity, and endocrine status were recorded 
      longitudinally. She exhibited a constant growth rate (average + 6.2 cm/yr) from 6 
      to 9 yr old, followed by a downward shift at 10 yr old. Her final height was 135 
      cm (-4.4 SD for an adult female) and weight was 50.5 kg (-0.3 SD) at 12 yr and 10 
      mo old. Mesomelia and cubitus valgus were noticed from 2 yr old, and metaphyseal 
      lucency and epiphyseal hypoplasia of the medial side of the distal radius were 
      detected at 6 yr old. Madelung deformity was obvious at 10 yr old, when menarche 
      occurred. Fluorescence in situ hybridization (FISH) analysis demonstrated a 
      single copy of the SHOX gene. The short stature of the patient was thought to be 
      exaggerated by the combination of SHOX haploinsufficiency and relatively early 
      puberty.
FAU - Miyoshi, Yoko
AU  - Miyoshi Y
AD  - Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, 
      Japan.
FAU - Miki, Kazunori
AU  - Miki K
AD  - Department of Pediatrics, Itami Municipal Hospital, Osaka, Japan.
FAU - Etani, Yuri
AU  - Etani Y
AD  - Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, 
      Japan.
FAU - Mushiake, Sotaro
AU  - Mushiake S
AD  - Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, 
      Japan.
FAU - Shimizu, Nobuyuki
AU  - Shimizu N
AD  - Department of Orthopedics, Osaka University Graduate School of Medicine, Osaka, 
      Japan.
FAU - Ozono, Keiichi
AU  - Ozono K
AD  - Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, 
      Japan.
LA  - eng
PT  - Journal Article
DEP - 20050214
PL  - Japan
TA  - Clin Pediatr Endocrinol
JT  - Clinical pediatric endocrinology : case reports and clinical investigations : 
      official journal of the Japanese Society for Pediatric Endocrinology
JID - 9433330
PMC - PMC4004926
OTO - NOTNLM
OT  - Leri-Weill dyschondrosteosis
OT  - haploinsufficiency
OT  - short stature homeobox-containing (SHOX) gene
OT  - transient neonatal hyperthyroidism
EDAT- 2005/01/01 00:00
MHDA- 2005/01/01 00:01
PMCR- 2005/01/01
CRDT- 2014/05/03 06:00
PHST- 2004/03/03 00:00 [received]
PHST- 2004/05/31 00:00 [accepted]
PHST- 2014/05/03 06:00 [entrez]
PHST- 2005/01/01 00:00 [pubmed]
PHST- 2005/01/01 00:01 [medline]
PHST- 2005/01/01 00:00 [pmc-release]
AID - 14-011 [pii]
AID - 10.1297/cpe.14.11 [doi]
PST - ppublish
SO  - Clin Pediatr Endocrinol. 2005;14(1):11-6. doi: 10.1297/cpe.14.11. Epub 2005 Feb 
      14.