No abstract.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/38266/1/28_ftp.pd

Deprez, Manuel

Fridman, Viviana

Gosseye, S.

Hubert, Annick

Lambert, Yves

Lombet, J.

Rigo, Jacques

Sokal, E.

Verloes, A.

American Journal of Medical Genetics

peer reviewedWe report on two sibs with syndromal congenital iron storage disease. Prenatal symptoms were IUGR, hydramnios, and placental hyperplasia. Clinical anomalies included hypertelorism and sparse, thin, curly hair (trichomalacia). Clinical course was marked by intractable diarrhoea, with normal histological and enzymological studies, cholestatic jaundice, hepatomegaly appearing after 30 days, and progressive liver failure, leading to death after a few months. The only metabolic anomaly was progressive hypermethioninemia. Pathologic examination of both children showed a similar pattern of multivisceral iron deposit compatible with a diagnosis of neonatal hemochromatosis: extensive liver fibrosis or cirrhosis with nodular regeneration, cholestasis, ductular proliferation, and hepatic, pituitary, thyroidal, adrenal, and pancreatic iron deposition. The unusual course for neonatal hemochromatosis in both sibs combined with concordant extrahepatic anomalies suggest that they could have a specific iron storage syndrome with possible autosomal recessive inheritance, probably similar to the sibship reported by Stanckler et al. [Arch Dis Child, 57:212-216, 1982]

Open Repository and Bibliography - Liège

Tricho-hepato-enteric syndrome: further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies.

No abstract.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/38265/1/27_ftp.pd

Petty, Elizabeth M.

Deep Blue Documents at the University of Michigan

Inherited disorders of the thyroid system

Medical genetics

No abstract.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/38267/1/29_ftp.pd

Cellular cancer markers

We report on two sibs with syndromal congenital iron storage disease. Prenatal symptoms were IUGR, hydramnios, and placental hyperplasia. Clinical anomalies included hypertelorism and sparse, thin, curly hair (trichomalacia). Clinical course was marked by intractable diarrhoea, with normal histological and enzymological studies, cholestatic jaundice, hepatomegaly appearing after 30 days, and progressive liver failure, leading to death after a few months. The only metabolic anomaly was progressive hypermethioninemia. Pathologic examination of both children showed a similar pattern of multivisceral iron deposit compatible with a diagnosis of neonatal hemochromatosis: extensive liver fibrosis or cirrhosis with nodular regeneration, cholestasis, ductular proliferation, and hepatic, pituitary, thyroidal, adrenal, and pancreatic iron deposition. The unusual course for neonatal hemochromatosis in both sibs combined with concordant extrahepatic anomalies suggest that they could have a specific iron storage syndrome with possible autosomal recessive inheritance, probably similar to the sibship reported by Stanckler et al. [Arch Dis Child, 57:212-216, 1982]

Verloes, Alain

Lombet, Jacques

Hubert, Anne-Frédérique

Gosseye, Serge

Sokal, Etienne

DIAL UCLouvain

Tricho-hepato-enteric syndrome: further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies

peer reviewedWe report on a 7-year-old boy born of consanguineous parents with severe microcephaly (-5 SD) but borderline intelligence, juvenile cataract, muscular build, rhizomelic shortness of limbs predominantly of femora, advanced bone age, and micropenis. This combination of signs appears unique and may represent an undescribed, possibly autosomal recessive MCA syndrome. The use of LDDB and POSSUM in the workup of such "new syndromes" is reviewed. Three search strategies are discussed: single rare sign browsing, best combinatory fit using an array of key words, and combined rare signs scan. Pitfalls in the use of such databases and the some problems raised by inconsistent/ incomplete encoding in those two popular, highly useful syndromology retrieval systems are discussed

Lesenfants, S.

Misson, Jean-Paul

Galand, Albert

Koulischer, Lucien

Microcephaly, muscular build, rhizomelia, and cataracts: Description of a possible recessive syndrome and some comments on the use of electronic databases in syndromology

http://deepblue.lib.umich.edu/bitstream/2027.42/38265/1/27_ftp.pdf

Medical genetics

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Open Repository and Bibliography - Liège

Deep Blue Documents at the University of Michigan

Deep Blue Documents at the University of Michigan

Deep Blue Documents at the University of Michigan

DIAL UCLouvain

Open Repository and Bibliography - Liège