Floating-Harbor syndrome : description of a further patient, review of the literature, and suggestion of autosomal dominant inheritance
The Floating-Harbor syndrome is a growth retardation syndrome with delayed bone age, speech development, and typical facial features. The face is triangular with deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips. We present an additional patient and review 16...
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Veröffentlicht in: | European journal of pediatrics 1995-08, Vol.154 (8), p.658-661 |
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Format: | Artikel |
Sprache: | eng |
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Zusammenfassung: | The Floating-Harbor syndrome is a growth retardation syndrome with delayed bone age, speech development, and typical facial features. The face is triangular with deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips. We present an additional patient and review 16 cases from the literature. The possible phenotype in the patient's mother suggests a dominant mode of inheritance for the syndrome.
The Floating Harbor syndrome is a growth deficiency syndrome characterized by proportionate short stature, characteristic face and delayed speech development. Inheritance is possibly autosomal dominant. |
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ISSN: | 0340-6199 1432-1076 |
DOI: | 10.1007/BF02079072 |