Genoa syndrome and central diabetes insipidus: A case report
JCRPE Journal of Clinical Research in Pediatric Endocrinology, vol.2, no.2, pp.89-91, 2010 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 2 Issue: 2
- Publication Date: 2010
- Doi Number: 10.4274/jcrpe.v2i2.89
- Journal Name: JCRPE Journal of Clinical Research in Pediatric Endocrinology
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Page Numbers: pp.89-91
- Keywords: Central diabetes insipidus, Cleft lip/palate, Craniosynostosis, Genoa syndrome, Holoprosencephaly
- Ankara University Affiliated: Yes
Abstract
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.