title: Genoa syndrome and central diabetes insipidus: a case report.
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.
authors.affiliation: Department of Pediatric Endocrinology, Ankara University School of Medicine, Ankara, Turkey. hacihamdi@mynet.com
authors.forename: Bülent
authors.initials: B
authors.lastname: Hacıhamdioğlu
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Şıklar
authors.forename: Şenay
authors.initials: Ş
authors.lastname: Savaş Erdeve
authors.forename: Merih
authors.initials: M
authors.lastname: Berberoğlu
authors.forename: Gülhiz
authors.initials: G
authors.lastname: Deda
authors.forename: Serap Teber
authors.initials: ST
authors.lastname: Tıraş
authors.forename: Suat
authors.initials: S
authors.lastname: Fitöz
authors.forename: Gönül
authors.initials: G
authors.lastname: Öcal
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D002971:Cleft Lip / Q000473:pathology; D002972:Cleft Palate / Q000473:pathology; D003398:Craniosynostoses / Q000473:pathology*; D020790:Diabetes Insipidus, Neurogenic / Q000473:pathology*; D016142:Holoprosencephaly / Q000473:pathology*; D006801:Humans; D007223:Infant; D008297:Male; D009666:Nose / Q000002:abnormalities; D013577:Syndrome