Median cleft of the upper lip associated with lipomas of the central nervous system and cutaneous polyps

An unusual combination of three rare developmental anomalies, ie, complete median cleft lip, cutaneous polyps, and midline lipomas of the central nervous system, was discovered in a male newborn. Inguinal hernia, cryptorchidism, and clinodactyly of the fifth fingers were other features. His mother w...

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Veröffentlicht in:American journal of medical genetics 1987-04, Vol.26 (4), p.921-924
Hauptverfasser: Pai, G. S., Levkoff, Abner H., Leithiser Jr, Richard E., Reynolds, James F.
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Sprache:eng
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Zusammenfassung:An unusual combination of three rare developmental anomalies, ie, complete median cleft lip, cutaneous polyps, and midline lipomas of the central nervous system, was discovered in a male newborn. Inguinal hernia, cryptorchidism, and clinodactyly of the fifth fingers were other features. His mother was found to have clinodactyly, antimongoloid slant to her palpebral fissures, and computed tomog‐raphy (CT) scan evidence of asymptomatic hydrocephaly. Family history and clinical investigations did not reveal any clues to etiology. This combination of findings may represent a new syndrome or another expression of frontonasal dysplasia.
ISSN:0148-7299
1096-8628
DOI:10.1002/ajmg.1320260421