Literature DB >> 6655463

[Solitary upper incisor, hypopituitarism and monosomy 18p chromosome aberration].

B Boudailliez, N Morichon-Delvallez, A Goldfarb, J C Pautard, C Lenaerts, C Piussan.   

Abstract

A prepubertal boy with hypopituitarism, mental retardation, dysmorphia and solitary maxillary central incisor is described, karyotypic studies showed deletion of the short arm of chromosome 18 (46, XY, del (18) (p11). It is suggested that caryotypic studies is of interest among the patients with midline defects and/or hypopituitarism.

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Mesh：

Year:  1983        PMID： 6655463

Source DB:  PubMed          Journal:  J Genet Hum        ISSN： 0021-7743


  4 in total

1.  Del(18p) syndrome with a single central maxillary incisor.

Authors:  E Morales Peralta; A Lantigua
Journal:  J Med Genet       Date:  1994-01       Impact factor: 6.318

2.  TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and Phenotype.

Authors:  A A Keaton; B D Solomon; E F Kauvar; K B El-Jaick; A L Gropman; Y Zafer; J M Meck; S J Bale; D K Grange; B R Haddad; G C Gowans; N J Clegg; M R Delgado; J S Hahn; D E Pineda-Alvarez; F Lacbawan; J I Vélez; E Roessler; M Muenke
Journal:  Mol Syndromol       Date:  2011-05-18

3.  Solitary median maxillary central incisor in association with hemifacial microsomia: A rare case report and review of literature.

Authors:  Ashok Utreja; Syed Naved Zahid; Richa Gupta
Journal:  Contemp Clin Dent       Date:  2011-10

Review 4.  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 in total

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