Genoa syndrome and central diabetes insipidus: A case report

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.