Hajdu-Cheney syndrome with growth hormone deficiency and neuropathy

ŞIKLAR Z., Tanyer G., Dallar Y., Aksoy F.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.13, sa.7, ss.951-954, 2000 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 13 Sayı: 7
  • Basım Tarihi: 2000
  • Doi Numarası: 10.1515/jpem.2000.13.7.951
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.951-954
  • Anahtar Kelimeler: Hajdu-Cheney syndrome, growth hormone deficiency, neuropathy
  • Ankara Üniversitesi Adresli: Hayır

Özet

A Hajdu-Cheney syndrome is a very rare congenital dysplastic bone disease including acroosteolysis, short stature, characteristic facies, osteopenia, abnormalities of spine, skull and long bones. A 9 year-old boy presented at our clinic with a chief complaint of short stature and frequent lower respiratory tract infections. He had typical physical and radiographic features of Hajdu-Cheney syndrome associated with growth hormone (GH) deficiency and peripheral motor neuropathy. To our knowledge, this is the first report describing GH deficiency and neuropathy in Hajdu-Cheney syndrome.