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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.

SUBMITTER: Hacıhamdioglu B 

PROVIDER: S-EPMC3005673 | biostudies-other | 2010

REPOSITORIES: biostudies-other

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Genoa syndrome and central diabetes insipidus: a case report.

Hacıhamdioğlu Bülent B   Şıklar Zeynep Z   Savaş Erdeve Şenay Ş   Berberoğlu Merih M   Deda Gülhiz G   Tıraş Serap Teber ST   Fitöz Suat S   Öcal Gönül G  

Journal of clinical research in pediatric endocrinology 20100508 2

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  ...[more]