Cerebro-facio-articular syndrome of Van Maldergem: confirmation of a new MR/MCA syndrome

Giuseppe Zampino; Cesare Colosimo; Francesca Balducci; Paolo Mariotti; Fabrizio Serra; Gioacchino Scarano; Pierpaolo Mastroiacovo

doi:10.1111/j.1399-0004.1994.tb04011.x

Cerebro-facio-articular syndrome of Van Maldergem: confirmation of a new MR/MCA syndrome

Giuseppe Zampino, Cesare Colosimo, Francesca Balducci, Paolo Mariotti, Fabrizio Serra, Gioacchino Scarano, Pierpaolo Mastroiacovo

Risultato della ricerca: Contributo in rivista › Articolo in rivista

13 Citazioni (Scopus)

Abstract

Van Maldergem et al. (1992) described a new syndrome in an 11-year-old girl, characterized by: mental retardation, hypotonia, dysmorphic facies with telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth, malformed ears, finger camptodactyly, and joint hyperlaxity. In this report we present a 5-year-old girl with very similar clinical findings. We confirm the existence of this condition as an independent clinical entity, and we propose that, based on the major clinical manifestations, it should be defined as "cerebro-facio-articular" syndrome.

Lingua originale	English
pagine (da-a)	140-144
Numero di pagine	5
Rivista	Clinical Genetics
Volume	45
DOI	https://doi.org/10.1111/j.1399-0004.1994.tb04011.x
Stato di pubblicazione	Pubblicato - 1994

Keywords

Abnormalities, Multiple
Ataxia
Blepharoptosis
Brain
Child, Preschool
Face
Female
Fingers
Foot Deformities, Congenital
Hand Deformities, Congenital
Humans
Infant, Newborn
Intellectual Disability
Joint Instability
Syndrome

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title = "Cerebro-facio-articular syndrome of Van Maldergem: confirmation of a new MR/MCA syndrome",

abstract = "Van Maldergem et al. (1992) described a new syndrome in an 11-year-old girl, characterized by: mental retardation, hypotonia, dysmorphic facies with telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth, malformed ears, finger camptodactyly, and joint hyperlaxity. In this report we present a 5-year-old girl with very similar clinical findings. We confirm the existence of this condition as an independent clinical entity, and we propose that, based on the major clinical manifestations, it should be defined as {"}cerebro-facio-articular{"} syndrome.",

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author = "Giuseppe Zampino and Cesare Colosimo and Francesca Balducci and Paolo Mariotti and Fabrizio Serra and Gioacchino Scarano and Pierpaolo Mastroiacovo",

year = "1994",

doi = "10.1111/j.1399-0004.1994.tb04011.x",

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AU - Zampino, Giuseppe

AU - Colosimo, Cesare

AU - Balducci, Francesca

AU - Mariotti, Paolo

AU - Serra, Fabrizio

AU - Scarano, Gioacchino

AU - Mastroiacovo, Pierpaolo

PY - 1994

Y1 - 1994

N2 - Van Maldergem et al. (1992) described a new syndrome in an 11-year-old girl, characterized by: mental retardation, hypotonia, dysmorphic facies with telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth, malformed ears, finger camptodactyly, and joint hyperlaxity. In this report we present a 5-year-old girl with very similar clinical findings. We confirm the existence of this condition as an independent clinical entity, and we propose that, based on the major clinical manifestations, it should be defined as "cerebro-facio-articular" syndrome.

AB - Van Maldergem et al. (1992) described a new syndrome in an 11-year-old girl, characterized by: mental retardation, hypotonia, dysmorphic facies with telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth, malformed ears, finger camptodactyly, and joint hyperlaxity. In this report we present a 5-year-old girl with very similar clinical findings. We confirm the existence of this condition as an independent clinical entity, and we propose that, based on the major clinical manifestations, it should be defined as "cerebro-facio-articular" syndrome.

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KW - Ataxia

KW - Blepharoptosis

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KW - Face

KW - Female

KW - Fingers

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KW - Hand Deformities, Congenital

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KW - Brain

KW - Child, Preschool

KW - Face

KW - Female

KW - Fingers

KW - Foot Deformities, Congenital

KW - Hand Deformities, Congenital

KW - Humans

KW - Infant, Newborn

KW - Intellectual Disability

KW - Joint Instability

KW - Syndrome

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DO - 10.1111/j.1399-0004.1994.tb04011.x

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JO - Clinical Genetics

JF - Clinical Genetics

ER -

Cerebro-facio-articular syndrome of Van Maldergem: confirmation of a new MR/MCA syndrome

Abstract

Keywords

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