Cornelia de Lange syndrome: evolution of the phenotype

A recent report described the difficulties inherent in diagnosing the Cornelia de Lange (CdL) syndrome at birth.1 The authors observed a child who at the age of 9 months was thought to have the Turner syndrome, but instead developed the well-known features of the CdL syndrome within the following ye...

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Published in:Pediatrics (Evanston) 1971-11, Vol.48 (5), p.833-836
Main Authors: Passarge, E, Mecke, S, Altrogge, H C
Format: Article
Language:English
Subjects:
Child, Preschool
De Lange Syndrome - diagnosis
De Lange Syndrome - etiology
De Lange Syndrome - genetics
Female
Humans
Infant
Infant, Newborn
Phenotype
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container_title Pediatrics (Evanston)
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creator Passarge, E
Mecke, S
Altrogge, H C
description A recent report described the difficulties inherent in diagnosing the Cornelia de Lange (CdL) syndrome at birth.1 The authors observed a child who at the age of 9 months was thought to have the Turner syndrome, but instead developed the well-known features of the CdL syndrome within the following year. This paper documents our experience with a young child over a period of 2 years. Initially, at the age of 8 and 11 months, she showed some features of the cri du chat syndrome, but by the age of 21 months she had developed the classical phenotype of having the CdL syndrome. Clinical Data
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ispartof Pediatrics (Evanston), 1971-11, Vol.48 (5), p.833-836
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1098-4275
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source EZB Electronic Journals Library
subjects Child, Preschool
De Lange Syndrome - diagnosis
De Lange Syndrome - etiology
De Lange Syndrome - genetics
Female
Humans
Infant
Infant, Newborn
Phenotype
title Cornelia de Lange syndrome: evolution of the phenotype
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