Spondyloenchondrodysplasia: a rare cause of short stature


Yesiltepe-Mutlu G., ÖZSU CAVGA E., ÇİZMECİOĞLU JONES F. M., ALANAY Y., Hatun S.

TURKISH JOURNAL OF PEDIATRICS, cilt.53, sa.4, ss.464-466, 2011 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 53 Sayı: 4
  • Basım Tarihi: 2011
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.464-466
  • Anahtar Kelimeler: skeletal dysplasia, spondyloenchondrodysplasia, enchondroma
  • Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Evet

Özet

Skeletal dysplasias (osteochondrodysplasias) are a group of diseases that must be included in the differential diagnosis of disproportionate short stature. History, clinical and radiologic findings and consanguinity are important features to be considered when a specific diagnosis is investigated. Spondyloenchondrodysplasia is a very rare skeletal dysplasia characterized with enchondromas in the long bones and platyspondyly. Manifestation of the disorder may include neurological involvement (spasticity, intracranial calcifications and mental retardation) and immune dysfunction. Herein, we report a 12-year-old boy who admitted to our clinic with short stature, who was born to consanguineous parents. He presented clinical (significant widening of wrists, ankles and knees) and radiologic (enchondromatous lesions in the metaphysis of long bones) features of spondyloenchondrodysplasia but did not yet have neurologic or immunologic involvement.