Genoa syndrome and central diabetes insipidus: A case report

Hacihamdioǧlu B., ŞIKLAR Z., Erdeve Ş. S., BERBEROĞLU M., Deda G., Tiraş S., ...Daha Fazla

JCRPE Journal of Clinical Research in Pediatric Endocrinology, cilt.2, sa.2, ss.89-91, 2010 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 2 Sayı: 2
  • Basım Tarihi: 2010
  • Doi Numarası: 10.4274/jcrpe.v2i2.89
  • Dergi Adı: JCRPE Journal of Clinical Research in Pediatric Endocrinology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.89-91
  • Anahtar Kelimeler: Central diabetes insipidus, Cleft lip/palate, Craniosynostosis, Genoa syndrome, Holoprosencephaly
  • Ankara Üniversitesi Adresli: Evet

Özet

Genoa syndrome was first described by Camera et al in 1993 in two patients with semilobar holoprosencephaly (HPE), craniosynostosis and abnormal small hands with cone-shaped epiphyses and hypoplastic terminal phalanges of fingers (OMIM: 601370). In 2001, Lapunzina et al reported a case of craniosynostosis and HPE associated with several other malformations and suggested that these findings could be attributed to a severe form of Genoa syndrome or to a newly recognized syndrome. Endocrinopathies in association with HPE are frequently reported in the literature. Diabetes insipidus, hypothyroidism, hypocortisolism, and growth hormone deficiency are frequently associated with HPE. We here report a case of semilobar HPE, craniosynostosis and cleft lip/palate, possibly a case of Genoa syndrome, associated with central diabetes insipidus. © Journal of Clinical Research in Pediatric Endocrinology.