Atypical medial femoral condylar fracture in Stuve-Wiedemann syndrome.


Ozkale Yavuz O., Yildiz A. E., Aydingoz U.

Clinical dysmorphology, cilt.31, ss.28-30, 2022 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 31
  • Basım Tarihi: 2022
  • Doi Numarası: 10.1097/mcd.0000000000000400
  • Dergi Adı: Clinical dysmorphology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.28-30
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Stuve-Wiedemann syndrome (SWS; OMIM 601559) is a rare autosomal recessive skeletal dysplasia with dysautonomia. The majority of cases with SWS have homozygous mutations of the leukemia inhibitory factor receptor (LIFR) gene located on chromosome 5p.13.1, which is responsible in fetal and neonatal bone resorption and neuronal development. Children with SWS may present with reduced pain sensation and reduced or absent patellar reflex (Mikelonis et al., 2014; Oxford et al., 2016). Typical and diagnostic features of the skeletal abnormalities causing postnatal short stature or dwarfism are short and bowed long bones, especially in the lower limbs, with medial (internal) cortical thickening. Large joint contractures, progressive scoliosis, wide metaphyses with radiolucent lesions, abnormal trabeculation and slightly irregular margins are other findings. Mineralization is generally reduced in the metaphyses and diaphyses, and the risk of spontaneous fractures is increased. SWS presents with diagnostic and typical radiologic features on skeletal surveys. Diaphyseal and metaphyseal fractures in SWS have been reported on conventional radiographs (Cormier-Daire et al., 1998; Bar-On el al., 2002; Buonuomo et al., 2014). However, to the best of our knowledge, SWS presenting with an intraarticular fracture has not been previously reported. Herein, we report the case of a 5-year-old girl with SWS who had an atypical curvilinear intraarticular fracture of the medial femoral condyle subjacent to the articular surface, most likely secondary to diminished sensitivity to pain associated with dysautonomia.