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.
Synopsis
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)
References
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