Abstract
A patient is described with a new association of microphthalmia, single central incisor, and hypopituitarism believed to represent a holoprosencephaly malformation. In view of the genetic ramifications of this malformation and its variable manifestations, we would like to alert the clinician to consider holoprosencephaly whenever midline malformations are detected.
Full text
PDF
Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Berry S. A., Pierpont M. E., Gorlin R. J. Single central incisor in familial holoprosencephaly. J Pediatr. 1984 Jun;104(6):877–880. doi: 10.1016/s0022-3476(84)80485-0. [DOI] [PubMed] [Google Scholar]
- Hattori H., Okuno T., Momoi T., Kataoka K., Mikawa H., Shiota K. Single central maxillary incisor and holoprosencephaly. Am J Med Genet. 1987 Oct;28(2):483–487. doi: 10.1002/ajmg.1320280226. [DOI] [PubMed] [Google Scholar]
- Liberfarb R. M., Abdo O. P., Pruett R. C. Ocular coloboma associated with a solitary maxillary central incisor and growth failure: manifestations of holoprosencephaly. Ann Ophthalmol. 1987 Jun;19(6):226–227. [PubMed] [Google Scholar]
- Münke M., Emanuel B. S., Zackai E. H. Holoprosencephaly: association with interstitial deletion of 2p and review of the cytogenetic literature. Am J Med Genet. 1988 Aug;30(4):929–938. doi: 10.1002/ajmg.1320300409. [DOI] [PubMed] [Google Scholar]
- Rappaport E. B., Ulstrom R. A., Gorlin R. J., Lucky A. W., Colle E., Miser J. Solitary maxillary central incisor and short stature. J Pediatr. 1977 Dec;91(6):924–928. doi: 10.1016/s0022-3476(77)80891-3. [DOI] [PubMed] [Google Scholar]
- Rogol A. D., Blizzard R. M., Johanson A. J., Furlanetto R. W., Evans W. S., Rivier J., Vale W. W., Thorner M. O. Growth hormone release in response to human pancreatic tumor growth hormone-releasing hormone-40 in children with short stature. J Clin Endocrinol Metab. 1984 Oct;59(4):580–586. doi: 10.1210/jcem-59-4-580. [DOI] [PubMed] [Google Scholar]
- Sadeghi-Nejad A., Senior B. Autosomal dominant transmission of isolated growth hormone deficiency in iris-dental dysplasia (Rieger's syndrome). J Pediatr. 1974 Nov;85(5):644–648. doi: 10.1016/s0022-3476(74)80507-x. [DOI] [PubMed] [Google Scholar]
- Zuppinger K. A., Sutter M., Zurbrügg R. P., Joss E. E., Oetliker O. Cleft lip and chorioideal coloboma associated with multiple hypothalamo-pituitary dysfunctions. J Clin Endocrinol Metab. 1971 Dec;33(6):934–939. doi: 10.1210/jcem-33-6-934. [DOI] [PubMed] [Google Scholar]