Malformation subtype

Articles

• humeral meromelia
  5 February 2008

  See also
  meromelia

• alobar holoprosencephaly
  23 April 2007

  In alobar HPE, the brain consists of a single spherical forebrain structure with a single ventricle. A large cyst which communicates with the ventricle is present in the posterior-dorsal part of the brain. Alobar HPE is incompatible with survival.
  The brain in alobar HPE is small and the gyral pattern and cortical architecture are abnormal. The eyes, which evaginate from the forebrain in the fourth week, are small and malformed or there is only one eye (cyclopia).
  Because the olfactory (...)

• non-syndromic heterotaxia
  25 July 2007

  nonsyndromic heterotaxia, non-syndromic laterality disorders, non-syndromal heterotaxia

• multiple intestinal atresias
  4 August 2007

  Digital slide
  NCK1-91 : Multiple intestinal atresia syndrome
  Etiology
  multiple intestinal atresias in Feingold syndrome with NMYC haploinsufficiency (#15821734#)
  Associations
  apple peel syndrome (#12891506#)
  severe combined immunodeficiency syndrome (SCID) (#2240032#)
  anal imperforation (imperforate anus) (#2202215#)
  References
  van Bokhoven H, Celli J, van Reeuwijk J, Rinne T, Glaudemans B, van Beusekom E, Rieu P, Newbury-Ecob RA, Chiang C, Brunner HG. MYCN haploinsufficiency (...)

• brachydactyly type B
  26 August 2007

  Brachydactyly type B (BDB) is characterized by terminal deficiency of fingers and toes.
  Etiology
  BDB is caused by
  heterozygous truncating mutations in the receptor tyrosine kinase-like orphan receptor 2 (ROR2) in the majority of patients
  point mutations in the bone morphogenetic protein antagonist NOGGIN (#17668388#)
  References
  Lehmann K, Seemann P, Silan F, Goecke TO, Irgang S, Kjaer KW, Kjaergaard S, Mahoney MJ, Morlot S, Reissner C, Kerr B, Wilkie AO, Mundlos S. A new subtype of (...)