de Lange, Cornelia

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de Lange,

Cornelia, Dutch pediatrician, 1871-1950.
Cornelia de Lange syndrome - Synonym(s): de Lange syndrome
de Lange syndrome - a congenital anomaly characterized by impaired development, mental retardation, characteristic facies with synophrys and hairline well down on forehead, depressed bridge of nose with uptilted tip of nose, small head with low-set ears, and flat spadelike hands with simian crease and short tapering fingers. Synonym(s): Amsterdam syndrome; Cornelia de Lange syndrome
Medical Eponyms © Farlex 2012
References in periodicals archive ?
Natural history of aging in Cornelia de Lange syndrome.
Genotype-phenotype correlations of 39 patients with Cornelia de Lange syndrome: The Dutch experience.
Cornelia de Lange syndrome was first described by Cornelia de Lange, a Dutch pediatrician in 1933.1 This syndrome is also called Brachmann de Lange syndrome as a similar case was reported earlier by him in 1916.2 It is a rare developmental disorder that can lead to multiple genetic anomalies characterized by growth and developmental retardation, low birth weight, hypertrichosis, anomalies in the structure of the upper limbs, gastroesophageal dysfunction, ophthalmologic and genitourinary anomalies, congenital diaphragmatic hernia, cardiac septal defect, distinctive facial features, learning difficulties, and mental retardation.3,4
El primer caso de sindrome Brachmann-de Lange o Cornelia de Lange (SCDL), fue descrito por Brachmann en 1916 (1) y posteriormente en 1933 Lange describio dos casos con similares caracteristicas (2), por lo cual este sindrome lleva sus nombres.
NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome.
Children with Cornelia de Lange Syndrome are small at birth and remain small compared with others of the same age.
Cornelia de Lange Syndrome affects around one in 10,000 children, including June Jones's daughter Natasha.
Cornelia de Lange Syndrome occurs in one of every 10,000 to 30,000 live births..
Cornelia de Lange syndrome is a condition of multiple congenital abnormalities of unknown cause that may recur due to mosaicism.
The family, including dad Jarrad, 44, were told their son had rare Cornelia de Lange Syndrome, a developmental disorder that affects many parts of the body, including the features.