TY - JOUR
T1 - One in three
T2 - Congenital bent bone disease and intermittent hyperthermia in three siblings with Stuve-Wiedemann syndrome
AU - Koul, Roshan
AU - Al-Kindy, Adila
AU - Mani, Renjith
AU - Sankhla, Dilip
AU - Al-Futaisi, Amna
PY - 2013/5
Y1 - 2013/5
N2 - 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.
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.
KW - Case report
KW - Myotonia
KW - Oman
KW - Pyrexia
KW - Schwartz-Jampel syndrome
KW - Stuve-Weidemann syndrome
UR - http://www.scopus.com/inward/record.url?scp=84877804008&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84877804008&partnerID=8YFLogxK
U2 - 10.12816/0003238
DO - 10.12816/0003238
M3 - Article
AN - SCOPUS:84877804008
SN - 2075-051X
VL - 13
SP - 301
EP - 305
JO - Sultan Qaboos University Medical Journal
JF - Sultan Qaboos University Medical Journal
IS - 2
ER -