Literature DB >> 975599

A familial syndrome of cranial, facial, oral and limb anomalies.

N Fitch, S Jequier, A Papageorgiou.   

Abstract

A family is described in which two male infants have microcephaly, abnormal ears, anti-mongoloid slant, small mouth, cleft palate, flexed overlapping fingers with syndactyly of digits three and four, syndactyly of the second to the fifth toes, and normal karyotype. This seems to be a new syndrome.

Entities:  

Mesh：

Year:  1976        PMID： 975599     DOI： 10.1111/j.1399-0004.1976.tb00039.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  5 in total

1.  Otopalatodigital syndrome type II.

Authors:  S E Holder; R M Winter
Journal:  J Med Genet       Date:  1993-04       Impact factor: 6.318

2.  A computerised data base for the diagnosis of rare dysmorphic syndromes.

Authors:  R M Winter; M Baraitser; J M Douglas
Journal:  J Med Genet       Date:  1984-04       Impact factor: 6.318

3.  Linkage of otopalatodigital syndrome type 2 (OPD2) to distal Xq28: evidence for allelism with OPD1.

Authors:  S P Robertson; S Walsh; M Oldridge; T Gunn; D Becroft; A O Wilkie
Journal:  Am J Hum Genet       Date:  2001-06-06       Impact factor: 11.025

4.  A Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype-genotype correlation.

Authors:  T Kondoh; N Okamoto; N Norimatsu; M Uetani; G Nishimura; H Moriuchi
Journal:  J Hum Genet       Date:  2007-01-31       Impact factor: 3.172

5.  Oto-palato-digital syndrome type I: further evidence for assignment of the locus to Xq28.

Authors:  V Biancalana; B Le Marec; S Odent; J A van den Hurk; A Hanauer
Journal:  Hum Genet       Date:  1991-12       Impact factor: 4.132
  5 in total

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