Literature DB >> 2260610

Roberts syndrome or "X-linked amelia"?

R Gershoni-Baruch1, A Drugan, M Bronshtein, E Z Zimmer.   

Abstract

We report on a syndrome of tetra-amelia, facial clefts, absence of ears, nose, and atresia ani, affecting 7 male infants or fetuses in one Arab Moslem kindred. The combination of anomalies described in each affected member is consistent with Roberts syndrome and the prevalence of intermarriage in this kindred could suggest an autosomal recessive mode of inheritance. Alternatively, the existence of a new syndrome, namely, "X-linked amelia" is proposed.

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Year:  1990        PMID: 2260610     DOI: 10.1002/ajmg.1320370430

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  5 in total

Review 1.  A review of supernumerary and absent limbs and digits of the upper limb.

Authors:  Zachary Klaassen; Monica Choi; Ruth Musselman; Deborah Eapen; R Shane Tubbs; Marios Loukas
Journal:  Surg Radiol Anat       Date:  2011-11-09       Impact factor: 1.246

2.  Fetal amelia: a case report.

Authors:  Nihal Al Riyami; Asfhaq Ahmed; Shahila Tanzeem; Mohammed Abdul-Latif
Journal:  Oman Med J       Date:  2012-01

3.  Severe congenital limb deficiencies, vertebral hypersegmentation, absent thymus and mirror polydactyly: a defect expression of a developmental control gene?

Authors:  M Urioste; I Lorda-Sánchez; M Blanco; E Burón; P Aparicio; M L Martínez-Frías
Journal:  Hum Genet       Date:  1996-02       Impact factor: 4.132

4.  Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family.

Authors:  Stephan Niemann; Chengfeng Zhao; Filon Pascu; Ulrich Stahl; Ute Aulepp; Lee Niswander; James L Weber; Ulrich Müller
Journal:  Am J Hum Genet       Date:  2004-02-05       Impact factor: 11.025

5.  Asymmetrical tetraphocomelia with radiohumeral synostosis.

Authors:  Aderibigbe M Shonubi; Olutola Akiode; Babatunde A Salami; Adewale A Musa; Sikirat A Sotimehin; Ganiyu A Sule
Journal:  Ann Saudi Med       Date:  2006 Jul-Aug       Impact factor: 1.526

  5 in total

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