Reference : Microcephaly, muscular build, rhizomelia, and cataracts: Description of a possible re...
Scientific journals : Article
Human health sciences : Neurology
Human health sciences : Pediatrics
Microcephaly, muscular build, rhizomelia, and cataracts: Description of a possible recessive syndrome and some comments on the use of electronic databases in syndromology
Verloes, Alain [Université de Liège - ULiège > > Génétique générale et humaine >]
Lesenfants, S. [> > > >]
Misson, Jean-Paul mailto [Université de Liège - ULiège > Département des sciences cliniques > Pédiatrie >]
Galand, Albert [Université de Liège - ULiège > > Relations académiques et scientifiques (Médecine) >]
Koulischer, Lucien [Université de Liège - ULiège > > Relations académiques et scientifiques (Médecine) >]
American Journal of Medical Genetics
455-60, discussion 461
Yes (verified by ORBi)
[en] microcephaly ; cataract ; muscular hypertrophy ; rhizomelia ; POSSUM database ; london dysmorphology database
[en] We report on a 7-year-old boy born of consanguineous parents with severe microcephaly (-5 SD) but borderline intelligence, juvenile cataract, muscular build, rhizomelic shortness of limbs predominantly of femora, advanced bone age, and micropenis. This combination of signs appears unique and may represent an undescribed, possibly autosomal recessive MCA syndrome. The use of LDDB and POSSUM in the workup of such "new syndromes" is reviewed. Three search strategies are discussed: single rare sign browsing, best combinatory fit using an array of key words, and combined rare signs scan. Pitfalls in the use of such databases and the some problems raised by inconsistent/ incomplete encoding in those two popular, highly useful syndromology retrieval systems are discussed.
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