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autosomal dominant hypobetalipoproteinemia

Wednesday 12 September 2007

ADHBL induced cholesterol deficiency has a significant effect on morphogenesis during embryogenesis, although additional genetic or environmental factors may be required to develop an SLOS-like phenotype in individuals with ADHLB.


- possible pseudo-Smith-Lemli-Opitz syndrome (pseudo-SLOS) (16088930, 12910487)

  • severe growth retardation
  • mental deficiency
  • epicanthal folds
  • short nose
  • low nasal bridge
  • anteverted nares
  • bilateral partial cutaneous syndactyly of toes 2 and 3

Differential diagnosis

- mild form of Smith-Lemli-Opitz syndrome (SLOS)


- Nakane T, Hayashibe H, Nakazawa S. An MCA/MR syndrome with hypocholesterolemia due to familial hypobetalipoproteinemia: report of a second patient with Nguyen syndrome. Am J Med Genet A. 2005 Sep 1;137(3):305-7. PMID: 16088930

- Nguyen K, Sigaudy S, Philip N. MCA/MR syndrome with hypocholesterolemia related to familial dominant hypobetalipoproteinemia. Am J Med Genet A. 2003 Aug 30;121(2):109-12. PMID: 12910487