Literature DB >> 2325094

Microphthalmia with single central incisor and hypopituitarism.

H G Artman1, E Boyden.   

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.

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Mesh：

Year:  1990        PMID： 2325094      PMCID： PMC1017003          DOI： 10.1136/jmg.27.3.192

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  8 in total

1.  Autosomal dominant transmission of isolated growth hormone deficiency in iris-dental dysplasia (Rieger's syndrome).

Authors:  A Sadeghi-Nejad; B Senior
Journal:  J Pediatr       Date:  1974-11       Impact factor: 4.406

2.  Cleft lip and chorioideal coloboma associated with multiple hypothalamo-pituitary dysfunctions.

Authors:  K A Zuppinger; M Sutter; R P Zurbrügg; E E Joss; O Oetliker
Journal:  J Clin Endocrinol Metab       Date:  1971-12       Impact factor: 5.958

3.  Ocular coloboma associated with a solitary maxillary central incisor and growth failure: manifestations of holoprosencephaly.

Authors:  R M Liberfarb; O P Abdo; R C Pruett
Journal:  Ann Ophthalmol       Date:  1987-06

4.  Solitary maxillary central incisor and short stature.

Authors:  E B Rappaport; R A Ulstrom; R J Gorlin; A W Lucky; E Colle; J Miser
Journal:  J Pediatr       Date:  1977-12       Impact factor: 4.406

Review 5.  Holoprosencephaly: association with interstitial deletion of 2p and review of the cytogenetic literature.

Authors:  M Münke; B S Emanuel; E H Zackai
Journal:  Am J Med Genet       Date:  1988-08

6.  Growth hormone release in response to human pancreatic tumor growth hormone-releasing hormone-40 in children with short stature.

Authors:  A D Rogol; R M Blizzard; A J Johanson; R W Furlanetto; W S Evans; J Rivier; W W Vale; M O Thorner
Journal:  J Clin Endocrinol Metab       Date:  1984-10       Impact factor: 5.958

7.  Single central incisor in familial holoprosencephaly.

Authors:  S A Berry; M E Pierpont; R J Gorlin
Journal:  J Pediatr       Date:  1984-06       Impact factor: 4.406

8.  Single central maxillary incisor and holoprosencephaly.

Authors:  H Hattori; T Okuno; T Momoi; K Kataoka; H Mikawa; K Shiota
Journal:  Am J Med Genet       Date:  1987-10
  8 in total
  5 in total

Review 1.  HESX1 and Septo-Optic Dysplasia.

Authors:  Mehul Tulsidas Dattani; Iain Caf Robinson
Journal:  Rev Endocr Metab Disord       Date:  2002-12       Impact factor: 6.514

Review 2.  Extracephalic manifestations of nonchromosomal, nonsyndromic holoprosencephaly.

Authors:  Ariel F Martinez; Paul S Kruszka; Maximilian Muenke
Journal:  Am J Med Genet C Semin Med Genet       Date:  2018-05-15       Impact factor: 3.908

Review 3.  Solitary median maxillary central incisor (SMMCI) syndrome.

Authors:  Roger K Hall
Journal:  Orphanet J Rare Dis       Date:  2006-04-09       Impact factor: 4.123

4.  Dental Abnormalities in Pituitary Dwarfism: A Case Report and Review of the Literature.

Authors:  Franco Ferrante; Sergio Blasi; Rolando Crippa; Francesca Angiero
Journal:  Case Rep Dent       Date:  2017-03-28

Review 5.  Genetics of septo-optic dysplasia.

Authors:  Daniel Kelberman; Mehul Tulsidas Dattani
Journal:  Pituitary       Date:  2007       Impact factor: 4.107
  5 in total

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