Abstract
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.
Full text
PDF
Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- BISHOP K., CONNOLLY J. M., CARTER C. H., CARPENTER D. G. HOLOPROSENCEPHALY: A CASE REPORT WITH NO EXTRACRANIAL ABNORMALITIES AND NORMAL CHROMOSOME COUNT AND KARYOTYPE. J Pediatr. 1964 Sep;65:406–414. doi: 10.1016/s0022-3476(64)80405-4. [DOI] [PubMed] [Google Scholar]
- Gustavson K. H., Kreuger A., Petersson P. O. Syndrome characterized by lingual malformation, polydactyly, tachypnea, and psychomotor retardation (Mohr syndrome). Clin Genet. 1971;2(4):261–266. doi: 10.1111/j.1399-0004.1971.tb00287.x. [DOI] [PubMed] [Google Scholar]
- PATAU K., SMITH D. W., THERMAN E., INHORN S. L., WAGNER H. P. Multiple congenital anomaly caused by an extra autosome. Lancet. 1960 Apr 9;1(7128):790–793. doi: 10.1016/s0140-6736(60)90676-0. [DOI] [PubMed] [Google Scholar]
- Pap Z., Buckó I., Szakáll S., Papp Z. Hochgradiger Mikrophthalmus beim Patau-Syndrom. Klin Monbl Augenheilkd. 1978 Sep;173(3):342–347. [PubMed] [Google Scholar]
- Rimoin D. L., Edgerton M. T. Genetic and clinical heterogeneity in the oral-facial-digital syndromes. J Pediatr. 1967 Jul;71(1):94–102. doi: 10.1016/s0022-3476(67)80236-1. [DOI] [PubMed] [Google Scholar]
- Taylor A. I. Autosomal trisomy syndromes: a detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's syndrome. J Med Genet. 1968 Sep;5(3):227–252. doi: 10.1136/jmg.5.3.227. [DOI] [PMC free article] [PubMed] [Google Scholar]