Stüve-Wiedemann syndrome in a neonate.
Τίτλος | Stüve-Wiedemann syndrome in a neonate. |
Publication Type | Journal Article |
Year of Publication | 2015 |
Authors | Sarafidis, K., Piretzi K., Agakidou E., Kohlhase J., & Zafeiriou D. |
Journal | Pediatr Int |
Volume | 57 |
Issue | 2 |
Pagination | 302-4 |
Date Published | 2015 Apr |
ISSN | 1442-200X |
Abstract | We describe a female neonate with Stüve-Wiedemann syndrome. The facial dysmorphism, joint contracture, distinctive skeletal changes, and myotonic discharges on electromyogram raised a suspicion of the rare autosomal recessive syndrome, which was later confirmed on molecular analysis of leukemia inhibitory factor receptor. She developed recurrent attacks of hyperpyrexia and died at age 3 months. |
DOI | 10.1111/ped.12431 |
Alternate Journal | Pediatr Int |
PubMed ID | 25868946 |