Clinical Dysmorphology 2002-Oct
Mental retardation, ptosis and polydactyly: a new autosomal recessive syndrome?
Straipsnius versti gali tik registruoti vartotojai
Prisijungti Registracija
Nuoroda įrašoma į mainų sritį
Raktažodžiai
Santrauka
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.