Cleft lip and cone-rod dystrophy in a consanguineous sibship

Margreet G.E.M. Ausems; Dienke Wittebol-Post; Raoul C.M. Hennekam

doi:10.1097/00019605-199610000-00005

Cleft lip and cone-rod dystrophy in a consanguineous sibship

Margreet G.E.M. Ausems^*
, Dienke Wittebol-Post
, Raoul C.M. Hennekam

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

3 Citations (Scopus)

Abstract

Three siblings from a consanguineous marriage were found to have a cleft lip. Two of them developed a progressive retinopathy which was identified as a cone-rod dystrophy. It is suggested that this association may represent a hitherto unreported entity with an autosomal recessive pattern of inheritance, although chance co-occurrence cannot be excluded.

Original language	English
Pages (from-to)	307-311
Number of pages	5
Journal	Clinical dysmorphology
Volume	5
Issue number	4
DOIs	https://doi.org/10.1097/00019605-199610000-00005
Publication status	Published - 1996
Externally published	Yes

Keywords

autosomal recessive inheritance
cleft lip
cone-rod dystrophy
retinopathy

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10.1097/00019605-199610000-00005

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title = "Cleft lip and cone-rod dystrophy in a consanguineous sibship",

abstract = "Three siblings from a consanguineous marriage were found to have a cleft lip. Two of them developed a progressive retinopathy which was identified as a cone-rod dystrophy. It is suggested that this association may represent a hitherto unreported entity with an autosomal recessive pattern of inheritance, although chance co-occurrence cannot be excluded.",

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doi = "10.1097/00019605-199610000-00005",

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AU - Ausems, Margreet G.E.M.

AU - Wittebol-Post, Dienke

AU - Hennekam, Raoul C.M.

PY - 1996

Y1 - 1996

N2 - Three siblings from a consanguineous marriage were found to have a cleft lip. Two of them developed a progressive retinopathy which was identified as a cone-rod dystrophy. It is suggested that this association may represent a hitherto unreported entity with an autosomal recessive pattern of inheritance, although chance co-occurrence cannot be excluded.

AB - Three siblings from a consanguineous marriage were found to have a cleft lip. Two of them developed a progressive retinopathy which was identified as a cone-rod dystrophy. It is suggested that this association may represent a hitherto unreported entity with an autosomal recessive pattern of inheritance, although chance co-occurrence cannot be excluded.

KW - autosomal recessive inheritance

KW - cleft lip

KW - cone-rod dystrophy

KW - retinopathy

UR - https://www.scopus.com/pages/publications/0029744813

U2 - 10.1097/00019605-199610000-00005

DO - 10.1097/00019605-199610000-00005

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EP - 311

JO - Clinical dysmorphology

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ER -

Cleft lip and cone-rod dystrophy in a consanguineous sibship

Abstract

Keywords

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