Two sisters with a syndrome of ocular, skeletal, and abdominal abnormalities (OSA syndrome)

Rita Mingarelli; Alessandro Castriota Scanderbeg; Bruno Dallapiccola

Two sisters with a syndrome of ocular, skeletal, and abdominal abnormalities (OSA syndrome)

Rita Mingarelli, Alessandro Castriota Scanderbeg, Bruno Dallapiccola

Ospedale Pediatrico Bambino Gesu

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

Abstract

Two adult sisters are described who had a unique association of facial, ocular, and skeletal defects, and abdominal muscle hypoplasia, indicating autosomal recessive inheritance. Many of these features overlap those previously found in other malformation syndromes. However, the constellation of defects observed in these patients appears to represent a previously unreported syndrome and autosomal recessive inheritance is likely.

Original language	English
Pages (from-to)	884-886
Number of pages	3
Journal	Journal of Medical Genetics
Volume	33
Issue number	10
Publication status	Published - 1996

Keywords

Autosomal recessive inheritance
Blepharophimosis
OSA syndrome
Skeletal defects

ASJC Scopus subject areas

Genetics
Genetics(clinical)

Cite this

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abstract = "Two adult sisters are described who had a unique association of facial, ocular, and skeletal defects, and abdominal muscle hypoplasia, indicating autosomal recessive inheritance. Many of these features overlap those previously found in other malformation syndromes. However, the constellation of defects observed in these patients appears to represent a previously unreported syndrome and autosomal recessive inheritance is likely.",

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N2 - Two adult sisters are described who had a unique association of facial, ocular, and skeletal defects, and abdominal muscle hypoplasia, indicating autosomal recessive inheritance. Many of these features overlap those previously found in other malformation syndromes. However, the constellation of defects observed in these patients appears to represent a previously unreported syndrome and autosomal recessive inheritance is likely.

AB - Two adult sisters are described who had a unique association of facial, ocular, and skeletal defects, and abdominal muscle hypoplasia, indicating autosomal recessive inheritance. Many of these features overlap those previously found in other malformation syndromes. However, the constellation of defects observed in these patients appears to represent a previously unreported syndrome and autosomal recessive inheritance is likely.

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KW - Blepharophimosis

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KW - Skeletal defects

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Two sisters with a syndrome of ocular, skeletal, and abdominal abnormalities (OSA syndrome)

Abstract

Keywords

ASJC Scopus subject areas

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