Mental retardation, ptosis and polydactyly: a new autosomal recessive syndrome?
Three affected sibs in a consanguineous family with short stature, mental retardation, downslanting palpebral fissures, ptosis and polydactyly are described. There was no hypogonadism or pigmentary retinopathy. They were thin in childhood and while two of the postpubertal sibs have a stocky build none is obese. We propose that this could be a previously unreported autosomal recessive syndrome.
Panigrahi
Inusha
I
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Phadke
Shubha R
SR
Agarwal
S S
SS
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D001763:Blepharoptosis / Q000473:pathology; D003241:Consanguinity; D005192:Family Health; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D008297:Male; D017689:Polydactyly / Q000235:genetics* / Q000473:pathology