Microcephaly, muscular build, rhizomelia, and cataracts: description of a possible recessive syndrome and some comments on the use of electronic databases in syndromology.
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.
Verloes
A
A
Centre for Human Genetics, Liège University, Belgium.
Lesenfants
S
S
Misson
J P
JP
Galand
A
A
Koulischer
L
L
D002386:Cataract / Q000235:genetics*; D002648:Child; D016208:Databases, Factual; D005121:Extremities / Q000473:pathology; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D017880:Limb Deformities, Congenital; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D009132:Muscles / Q000002:abnormalities / Q000473:pathology; D011247:Pregnancy; D013577:Syndrome