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Literature DB >> 8411034

An epidemiological study of isolated split hand/foot in Hungary, 1975-1984.

Abstract

A population based and validated 10 year cohort of 94 cases with split hand/foot born in Hungary, 1975-1984 was evaluated. This type of congenital limb deficiency was relatively frequently (43%) associated with non-limb defects. Fifty-four cases with isolated split hand/foot are evaluated in this paper. A single limb was affected in 78% of cases. The upper limbs were 21 times more frequently affected in unimelic cases with a right sided predominance and male excess. Case-control analysis indicated intrauterine growth retardation and lower socioeconomic status of parents of cases. Family study showed six familial cases with autosomal dominant inheritance among 152 first and 452 second degree relatives. All familial cases were males.

Entities: Disease

Mesh：

Year: 1993 PMID： 8411034 PMCID： PMC1016461 DOI： 10.1136/jmg.30.7.593

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

5 in total

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Authors: F Hefti
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2. p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.

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4. A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation.

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Journal: Hum Genet Date: 2007-06-14 Impact factor: 4.132

Review 10. Split hand/foot malformation genetics supports the chromosome 7 copy segregation mechanism for human limb development.

Authors: Amar J S Klar
Journal: Philos Trans R Soc Lond B Biol Sci Date: 2016-12-19 Impact factor: 6.237