Literature DB >> 843249

Duane syndrome and congenital upper-limb anomalies. A familial occurrence.

M M Okihiro, T Tasaki, K K Nakano, B K Bennett.   

Abstract

We report a family in which five members in three generations have been afflicted with Duane syndrome. Four of the five members also have congenital hypoplasia of the thenar eminence. One also was afflicted with Hirschsprung disease and another was born deaf. A sixth member, who does not have Duane syndrome, is afflicted with a more extensive malformation of the upper extremities and unilateral deafness. We present a discussion of Duane syndrome and its association with other congenital anomalies. Although some members of this family presented in this report show features that are similar to the Holt-Oram syndrome, Wildervanck's syndrome, and others reported in the literature, there are several unique features about this family that we thought were worth reporting.

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Year:  1977        PMID: 843249     DOI: 10.1001/archneur.1977.00500150060012

Source DB:  PubMed          Journal:  Arch Neurol        ISSN: 0003-9942


  12 in total

1.  Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy.

Authors:  J Kohlhase; L Schubert; M Liebers; A Rauch; K Becker; S N Mohammed; R Newbury-Ecob; W Reardon
Journal:  J Med Genet       Date:  2003-07       Impact factor: 6.318

Review 2.  [Congenital fibrosis of extraocular muscles (CFEOM) and other phenotypes of congenital cranial dysinnervation syndromes (CCDD)].

Authors:  Frank Hanisch; Viktoria Bau; Stephan Zierz
Journal:  Nervenarzt       Date:  2005-04       Impact factor: 1.214

Review 3.  Thalidomide embryopathy: a model for the study of congenital incomitant horizontal strabismus.

Authors:  M T Miller
Journal:  Trans Am Ophthalmol Soc       Date:  1991

4.  Bilateral congenital absence of the abducens nerve.

Authors:  W F Hickey; M D Wagoner
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1983

5.  Immunoexpression of SALL4 in Wilms tumors and developing kidney.

Authors:  Jeremy Deisch; Jack Raisanen; Dinesh Rakheja
Journal:  Pathol Oncol Res       Date:  2011-01-22       Impact factor: 3.201

6.  [Okihiro syndrome : Duane's syndrome and radial malformations of the limbs].

Authors:  A H Haus; J Kohlhase; B Käsmann; B Seitz
Journal:  Ophthalmologe       Date:  2008-06       Impact factor: 1.059

7.  Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family.

Authors:  Raidah Al-Baradie; Koki Yamada; Cynthia St Hilaire; Wai-Man Chan; Caroline Andrews; Nathalie McIntosh; Motoi Nakano; E Jean Martonyi; William R Raymond; Sada Okumura; Michael M Okihiro; Elizabeth C Engle
Journal:  Am J Hum Genet       Date:  2002-10-22       Impact factor: 11.025

8.  A Sall4 mutant mouse model useful for studying the role of Sall4 in early embryonic development and organogenesis.

Authors:  Madhuri Warren; Wei Wang; Sarah Spiden; Dongrong Chen-Murchie; David Tannahill; Karen P Steel; Allan Bradley
Journal:  Genesis       Date:  2007-01       Impact factor: 2.487

9.  Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans.

Authors:  Amira Elmakky; Ilaria Stanghellini; Antonio Landi; Antonio Percesepe
Journal:  Curr Genomics       Date:  2015-08       Impact factor: 2.236

10.  Diversified clinical presentations associated with a novel sal-like 4 gene mutation in a Chinese pedigree with Duane retraction syndrome.

Authors:  Ming-ming Yang; Mary Ho; Henry H W Lau; Pancy O S Tam; Alvin L Young; Chi Pui Pang; Wilson W K Yip; LiJia Chen
Journal:  Mol Vis       Date:  2013-05-06       Impact factor: 2.367

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