Literature DB >> 3146299

Congenital hypothalamic hamartoma associated with severe midline defect: a developmental field defect. Report of a case.

R C Hennekam1, F A Beemer, F Van Merrienboer, B A Van Ketel, P P Kramer.   

Abstract

We describe a median "cleft" face anomaly (MCFA) with congenital hypothalamic hamartoma in a newborn girl. The MCFA was associated with a frontal midline skull lipoma and a complex congenital heart defect. Possible pathogenetic mechanisms are discussed, and a review of the pertinent literature is given. It is concluded that probably all malformations in our patient are disturbances of a single developmental field defect, ie, the midline.

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Year:  1986        PMID: 3146299     DOI: 10.1002/ajmg.1320250608

Source DB:  PubMed          Journal:  Am J Med Genet Suppl        ISSN: 1040-3787


  3 in total

1.  Late MR follow-up of hypothalamic hamartomas.

Authors:  F Turjman; J L Xavier; J C Froment; V A Tran-Minh; L David; C Lapras
Journal:  Childs Nerv Syst       Date:  1996-02       Impact factor: 1.475

2.  Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands.

Authors:  A Verloes; A David; L Ngô; A Bottani
Journal:  J Med Genet       Date:  1995-08       Impact factor: 6.318

3.  Craniofrontonasal dysplasia.

Authors:  L Kapusta; H G Brunner; B C Hamel
Journal:  Eur J Pediatr       Date:  1992-11       Impact factor: 3.183

  3 in total

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