Cleft lip and cone-rod dystrophy in a consanguineous sibship

M. G. Ausems; D. Wittebol-Post; R. C. Hennekam

Cleft lip and cone-rod dystrophy in a consanguineous sibship

M. G. Ausems, D. Wittebol-Post, R. C. Hennekam

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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
Journal	Clinical Dysmorphology
Volume	5
Issue number	4
Publication status	Published - 1996

Cite this

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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",

author = "Ausems, {M. G.} and D. Wittebol-Post and Hennekam, {R. C.}",

year = "1996",

language = "English",

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journal = "Clinical Dysmorphology",

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T1 - Cleft lip and cone-rod dystrophy in a consanguineous sibship

AU - Ausems, M. G.

AU - Wittebol-Post, D.

AU - Hennekam, R. C.

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

M3 - Article

C2 - 8905195

SN - 0962-8827

VL - 5

SP - 307

EP - 311

JO - Clinical Dysmorphology

JF - Clinical Dysmorphology

IS - 4

ER -