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 (...)
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Malformation subtype
Articles
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alobar holoprosencephaly
23 April 2007 -
non-syndromic heterotaxia
25 July 2007nonsyndromic heterotaxia, non-syndromic laterality disorders, non-syndromal heterotaxia
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multiple intestinal atresias
4 August 2007Digital 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 (...) -
humeral meromelia
5 February 2008See also
meromelia -
brachydactyly type B
26 August 2007Brachydactyly 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 (...)
