Unknown syndrome: Noonan-like craniofacial features, digital anomalies, and premature birth

We report a mother and two of her children, one female and the other male, who have ptosis, hypertelorism, epicanthic folds, downward slanting palpebral fissures, broad nasal bridge, and minor digital anomalies (fig 1); the children had delayed closure of a large anterior fontanelle. All three affec...

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Bibliographic Details
Published in:Journal of medical genetics 1989-07, Vol.26 (7), p.470-472
Main Authors: Shepherd, R C, Goudie, D R, Tolmie, J L
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Adult
Biological and medical sciences
Child, Preschool
Complex syndromes
Face - abnormalities
Female
Fingers - abnormalities
Humans
Infant, Newborn
Infant, Premature
Male
Medical genetics
Medical sciences
Noonan Syndrome - genetics
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Summary:We report a mother and two of her children, one female and the other male, who have ptosis, hypertelorism, epicanthic folds, downward slanting palpebral fissures, broad nasal bridge, and minor digital anomalies (fig 1); the children had delayed closure of a large anterior fontanelle. All three affected persons were born prematurely.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.26.7.470