Literature DB >> 6726520

Single central incisor in familial holoprosencephaly.

S A Berry, M E Pierpont, R J Gorlin.   

Abstract

Most cases of holoprosencephaly occur sporadically, but occasionally this malformation recurs in a kindred. In a family with two affected children, the father and paternal aunt were found to have single central maxillary incisors and hypotelorism. Family members of children with holoprosencephaly should be carefully examined for these physical findings; their presence may represent evidence for a less severe form of holoprosencephaly that may be transmitted in an autosomal dominant fashion.

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Year:  1984        PMID: 6726520     DOI: 10.1016/s0022-3476(84)80485-0

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


  11 in total

1.  A single maxillary incisor as a manifestation of an ectodermal dysplasia.

Authors:  I Buntinx; M Baraitser
Journal:  J Med Genet       Date:  1989-10       Impact factor: 6.318

2.  Septopreoptic holoprosencephaly: a mild subtype associated with midline craniofacial anomalies.

Authors:  J S Hahn; P D Barnes; N J Clegg; E E Stashinko
Journal:  AJNR Am J Neuroradiol       Date:  2010-05-20       Impact factor: 3.825

3.  Molecular detection of a Yp/18 translocation in a 45,X holoprosencephalic male.

Authors:  M Münke; D C Page; L G Brown; B A Armson; E H Zackai; M T Mennuti; B S Emanuel
Journal:  Hum Genet       Date:  1988-11       Impact factor: 4.132

Review 4.  Solitary median maxillary central incisor syndrome (SMMCI) with congenital nasal puriform aperture stenosis: literature review and case report with comprehensive dental treatment and 14 years follow-up.

Authors:  N N Lygidakis; K Chatzidimitriou; N Petrou; N A Lygidakis
Journal:  Eur Arch Paediatr Dent       Date:  2013-06-18

Review 5.  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

6.  Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity.

Authors:  M Muenke; F Gurrieri; C Bay; D H Yi; A L Collins; V P Johnson; R C Hennekam; G B Schaefer; L Weik; M S Lubinsky
Journal:  Proc Natl Acad Sci U S A       Date:  1994-08-16       Impact factor: 11.205

7.  Microphthalmia with single central incisor and hypopituitarism.

Authors:  H G Artman; E Boyden
Journal:  J Med Genet       Date:  1990-03       Impact factor: 6.318

8.  Holoprosencephaly: a family showing dominant inheritance and variable expression.

Authors:  A L Collins; P W Lunt; C Garrett; N R Dennis
Journal:  J Med Genet       Date:  1993-01       Impact factor: 6.318

Review 9.  Solitary median maxillary central incisor (SMMCI) syndrome.

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

10.  Molecular analysis of holoprosencephaly in South America.

Authors:  Clarice Pagani Savastano; Kênia Balbi El-Jaick; Marcelo Aguiar Costa-Lima; Cristina Maria Batista Abath; Sebastiano Bianca; Denise Pontes Cavalcanti; Têmis Maria Félix; Gioacchino Scarano; Juan Clinton Llerena; Fernando Regla Vargas; Miguel Ângelo Martins Moreira; Hector N Seuánez; Eduardo Enrique Castilla; Iêda Maria Orioli
Journal:  Genet Mol Biol       Date:  2014-03       Impact factor: 1.771

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