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)

Fingerprint Dive into the research topics of 'Two sisters with a syndrome of ocular, skeletal, and abdominal abnormalities (OSA syndrome)'. Together they form a unique fingerprint.

Cite this

@article{c3162f18556e449ba46da91d4b2fd62d,

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

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.",

keywords = "Autosomal recessive inheritance, Blepharophimosis, OSA syndrome, Skeletal defects",

author = "Rita Mingarelli and Scanderbeg, {Alessandro Castriota} and Bruno Dallapiccola",

year = "1996",

language = "English",

volume = "33",

pages = "884--886",

journal = "Journal of Medical Genetics",

issn = "0022-2593",

publisher = "BMJ Publishing Group",

number = "10",

}

TY - JOUR

T1 - Two sisters with a syndrome of ocular, skeletal, and abdominal abnormalities (OSA syndrome)

AU - Mingarelli, Rita

AU - Scanderbeg, Alessandro Castriota

AU - Dallapiccola, Bruno

PY - 1996

Y1 - 1996

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.

KW - Autosomal recessive inheritance

KW - Blepharophimosis

KW - OSA syndrome

KW - Skeletal defects

UR - http://www.scopus.com/inward/record.url?scp=19244362483&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=19244362483&partnerID=8YFLogxK

M3 - Article

C2 - 8933348

AN - SCOPUS:19244362483

VL - 33

SP - 884

EP - 886

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

SN - 0022-2593

IS - 10

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

Other files and links

Cite this