A syndrome of mental retardation, short stature, hemolytic anemia, delayed puberty, and abnormal facial appearance: similarities to a report of aldolase A deficiency.
We describe a brother and sister with mental retardation, short stature, delayed puberty, spherocytic anemia, and an abnormal facial appearance. The similarities to a child with aldolase A deficiency are discussed.
Department of Clinical Genetics, Hospital for Sick Children, London, United Kingdom.
J A
JA
Hurst
M
M
Baraitser
R M
RM
Winter
D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D000328:Adult; D000745:Anemia, Hemolytic, Congenital / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D004392:Dwarfism / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D005260:Female; D005634:Fructose-Bisphosphate Aldolase / Q000172:deficiency*; D005808:Genes, Recessive; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D011628:Puberty, Delayed / Q000235:genetics*; D013577:Syndrome
D005634:Fructose-Bisphosphate Aldolase