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| News, April 17, 2005 |
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Cornelia de Lange Syndrome
12/3/2002
Although the original description was made in 1916 by W. Brachman, the syndrome was further characterized by Cornelia de Lange, a Dutch pediatrist and neuropathologist in 1933.
Usually sporadic, has been associated with partial trisomy 3q although there is no consistent chromosomal abnormality in this syndrome.
Clinical manifestations are variable and include:
- Growth deficiency and mental retardation on a low birth weight infant
- Microcephaly with brachycephaly
- Hirsutism, exuberant eyebrows that converge at the midline (synophrys), long eyelashes
- Anteverted nostrils, posteriorly rotated low-set ears, long philtrum
- High-arched palate with characteristic low-pitched growling cry
- Generalized cutis marmorata, extensive keratosis pilaris and abnormal dermatoglyphics
- Hypospadias, and undescended testes are common
- Severe mental retardation and autistic-like behavior
- Multiple skeletal abnormalities including short digits (thumb, 5th), contractures and micromelia.
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