Parental consanguinity in the blepharophimosis, heart defect, hypothyroidism, mental retardation syndrome (Young-Simpson syndrome).
In 1987 Young and Simpson reported a child with hypothyroidism, congenital heart disease, severe mental retardation, and striking facial dysmorphism. Two subsequent reports have described patients sharing some of the features of their case, although in both there were enough discordant features to make it uncertain that the same entity was being described. Here we present a female infant with virtually identical features to Young and Simpson's original case. Her Caucasian parents are first cousins, raising the possibility of autosomal recessive inheritance of this new syndrome.
Bonthron
D T
DT
Edinburgh University, Department of Medicine (WGH), Western General Hospital.
Barlow
K M
KM
Burt
A M
AM
Barr
D G
DG
D000015:Abnormalities, Multiple / Q000235:genetics*; D016569:Blepharophimosis / Q000235:genetics*; D003241:Consanguinity; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007037:Hypothyroidism / Q000235:genetics*; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D012272:Ribs / Q000002:abnormalities; D013577:Syndrome