Syndrome of polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation in endogamic gypsies.
AUTOR(ES)
Váradi, V
RESUMO
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 features with several previously delineated syndromes, but is most similar to the anomalies of trisomy 13 Mand ohr's syndrome. Our patients had a normal karyotype. The mode of inheritance of this lethal genetic syndrome is probably autosomal recessive.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1048515Documentos Relacionados
- Syndrome of polydactyly, cleft lip, lingual hamartomas, renal hypoplasia, hearing loss, and psychomotor retardation: variant of the Mohr syndrome or a new syndrome?
- Comparison of videonasoendoscopy and auditory-perceptual evaluation of speech in individuals with cleft lip/palate
- Polymorphisms in genes MTHFR, MTR and MTRR are not risk factors for cleft lip/palate in South Brazil
- Polymorphisms in genes MTHFR, MTR and MTRR are not risk factors for cleft lip/palate in South Brazil
- Syndactyly, ectodermal dysplasia, and cleft lip/palate.