PMID- 23862038
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20130717
LR  - 20211021
IS  - 2075-051X (Print)
IS  - 2075-0528 (Electronic)
IS  - 2075-051X (Linking)
VI  - 13
IP  - 2
DP  - 2013 May
TI  - One in three: congenital bent bone disease and intermittent hyperthermia in three 
      siblings with stuve-wiedemann syndrome.
PG  - 301-5
AB  - Stuve-Wiedemann syndrome (STWS) is a rare disorder characterised by congenital 
      bowing of the long bones, contractures of the joints, neonatal onset of 
      respiratory distress, sucking and swallowing difficulties, dysautonomia 
      presenting as episodic hyperthermia, and usually an early death. Three siblings 
      from a consanguineous marriage presented with similar clinical features over 16 
      years. STWS was established with their last child at the beginning of 2012. All 
      the children exhibited the onset of STWS in the neonatal period with fever and 
      generalised hypotonia. Examinations of all the infants revealed camptodactyly, 
      micrognathia, bent long bones with wide metaphyses, and hypotonia. Only the 
      second affected child had myotonia, demonstrated by electromyography. Unusual 
      pyrexia as a presenting feature in this syndrome needs early recognition so that 
      extensive and elaborate investigations can be avoided. The disorder is usually 
      caused by a mutation in the leukaemia inhibitory factor receptor gene.
FAU - Koul, Roshan
AU  - Koul R
AD  - Departments of Child Health, Sultan Qaboos University Hospital, Muscat, Oman.
FAU - Al-Kindy, Adila
AU  - Al-Kindy A
FAU - Mani, Renjith
AU  - Mani R
FAU - Sankhla, Dilip
AU  - Sankhla D
FAU - Al-Futaisi, Amna
AU  - Al-Futaisi A
LA  - eng
PT  - Journal Article
DEP - 20130509
PL  - Oman
TA  - Sultan Qaboos Univ Med J
JT  - Sultan Qaboos University medical journal
JID - 101519915
PMC - PMC3706122
OTO - NOTNLM
OT  - Case report
OT  - Myotonia
OT  - Oman
OT  - Pyrexia
OT  - Schwartz-Jampel syndrome
OT  - Stuve-Weidemann syndrome
EDAT- 2013/07/19 06:00
MHDA- 2013/07/19 06:01
PMCR- 2013/05/01
CRDT- 2013/07/18 06:00
PHST- 2012/09/02 00:00 [received]
PHST- 2012/11/24 00:00 [revised]
PHST- 2012/11/24 00:00 [accepted]
PHST- 2013/07/18 06:00 [entrez]
PHST- 2013/07/19 06:00 [pubmed]
PHST- 2013/07/19 06:01 [medline]
PHST- 2013/05/01 00:00 [pmc-release]
AID - squmj-13-301 [pii]
AID - 10.12816/0003238 [doi]
PST - ppublish
SO  - Sultan Qaboos Univ Med J. 2013 May;13(2):301-5. doi: 10.12816/0003238. Epub 2013 
      May 9.