Syndrome of polydactyly, cleft lip, lingual hamartomas, renal hypoplasia, hearing loss, and psychomotor retardation: variant of the Mohr syndrome or a new syndrome?
نویسندگان
چکیده
Three sibs, the proband and two monozygotic twins, have a condition including mental retardation, postnatal somatic retardation, preaxial polydactyly of the feet, bifid third metacarpal, median cleft lip, fatty hamartomas on the dorsum of the tongue, conductive hearing loss, and unilateral or bilateral renal agenesis. This probably autosomal recessive syndrome could be a further example of the condition described by Váradi et al or a variant of the Mohr syndrome.
منابع مشابه
Syndrome of polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation in endogamic gypsies.
Six children in an inbred isolate (a gypsy colony) were found to have a syndrome of reduplication of the big toes, supernumerary fingers on the hands, cleft lip/palate or lingual nodule, and somatic and psychomotor retardation. Other features sometimes present were absence of olfactory bulbs and tracts, cryptorchidism, inguinal hernia, and congenital heart disease. The disorder has overlapping ...
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عنوان ژورنال:
- Journal of medical genetics
دوره 20 6 شماره
صفحات -
تاریخ انتشار 1983