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Tricho-rhino-phalangeal syndrome type II associated with epiglottic aplasia and congenital nephrotic syndrome.
Lu, F L; Hou, J W; Tsai, W S; Teng, R J; Yau, K I; Wang, T R.
Afiliação
  • Lu FL; Department of Pediatrics, National Taiwan University Hospital, Taipei, ROC.
J Formos Med Assoc ; 96(3): 217-21, 1997 Mar.
Article em En | MEDLINE | ID: mdl-9080763
A male neonate with tricho-rhino-phalangeal syndrome type II (Langer-Giedion syndrome) and interstitial deletion of chromosome 8 with karyotype 46, XY, del (8) (q24.11-->q24.13) is reported. In addition to hypotrichosis of the scalp hair, abnormally bulbous nose and redundant skin, which are usually found in this syndrome, aplasia of the epiglottis and non-Finnish type congenital nephrotic syndrome were also present. He died of renal failure and respiratory failure at 11 days of age. Electron microscopy of renal necropsy showed foot process loss, focal thickening and splitting of the glomerular basement membrane and mesangial expansion. These have never been reported and could be new associations in this disease that may serve to support the concept of contiguous gene syndrome in patients with tricho-rhino-phalangeal syndrome.
Assuntos
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Langer-Giedion / Epiglote / Síndrome Nefrótica Tipo de estudo: Risk_factors_studies Limite: Humans / Male / Newborn Idioma: En Ano de publicação: 1997 Tipo de documento: Article
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Langer-Giedion / Epiglote / Síndrome Nefrótica Tipo de estudo: Risk_factors_studies Limite: Humans / Male / Newborn Idioma: En Ano de publicação: 1997 Tipo de documento: Article