Tricho-rhino-phalangeal syndrome type II associated with epiglottic aplasia and congenital nephrotic syndrome. J Formos Med Assoc 1997 Mar;96(3):217-21
Date
03/01/1997Pubmed ID
9080763Scopus ID
2-s2.0-0031003141 (requires institutional sign-in at Scopus site) 10 CitationsAbstract
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.
Author List
Lu FL, Hou JW, Tsai WS, Teng RJ, Yau KI, Wang TRAuthor
Ru-Jeng Teng MD Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
EpiglottisHumans
Infant, Newborn
Langer-Giedion Syndrome
Male
Nephrotic Syndrome
