Literature DB >> 9733034

Four sibs with dislocated elbows, bowed tibiae, scoliosis, deafness, cataract, microcephaly, and mental retardation: a new MCA/MR syndrome.

A Mégarbané1, K Kharrat, G Kreichati.   

Abstract

We report four sibs with an MCA/MR syndrome whose parents were first cousins. The sibs had mental retardation, microcephaly, hearing problems, cataract, and multiple osseous malformations, such as dislocated elbows, bowed tibiae, and scoliosis. Review of published reports and the use of the London Dysmorphology Database suggest that this family presents a new syndrome.

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Year:  1998        PMID: 9733034      PMCID: PMC1051428          DOI: 10.1136/jmg.35.9.755

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


  4 in total

1.  Tapetoretinal degeneration associated with multisystem abnormalities. A case report.

Authors:  R M Liberfarb; O Katsumi; E Fleischnick; F Shapiro; T Hirose
Journal:  Ophthalmic Paediatr Genet       Date:  1986-12

2.  Oto-palato-digital syndrome with features of type I and II in brothers.

Authors:  D Horn; I Nitz; R Bollmann
Journal:  Genet Couns       Date:  1995

3.  Severe mental retardation, cataracts, short stature, and primary hypogonadism in two brothers.

Authors:  J T Martsolf; A G Hunter; J C Haworth
Journal:  Am J Med Genet       Date:  1978

Review 4.  Larsen's syndrome: review of the literature and analysis of thirty-eight cases.

Authors:  J M Laville; P Lakermance; F Limouzy
Journal:  J Pediatr Orthop       Date:  1994 Jan-Feb       Impact factor: 2.324

  4 in total

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