We report on two male and two female relatives with intestinal lymphangiectasia; severe lymphedema of limbs, genitalia, and face; facial anomalies; seizures; mild growth retardation; and moderate mental retardation. Main facial anomalies are a flat face, flat nasal bridge, hypertelorism, small mouth, tooth anomalies, and ear defects. Their parents are consanguineous. This disorder probably is an hitherto undescribed autosomal recessive syndrome.

Oral calcium phosphate: a new therapy for Crigler-Najjar disease?van der Veere, C.N.; Jansen, P.L.M.; Sinaasappel, M.; van der Meer, R; van der Sijs, I.H.; Rammeloo, J.A.; Goyens, P.; v Nieuwkerk, C.M.J.; Oude Elferink, R.P.J. Published in: Gastroenterology DOI:10. 1053/gast.1997.v112.pm9024299 Link to publication Citation for published version (APA):van der Veere, C. N., Jansen, P. L. M., Sinaasappel, M., van der Meer, R., van der Sijs, I. H., Rammeloo, J. A., ... Oude Elferink, R. P. J. (1997). Oral calcium phosphate: a new therapy for Crigler-Najjar disease? Gastroenterology, 112, 455-462. DOI: 10.1053/gast.1997 General rights It is not permitted to download or to forward/distribute the text or part of it without the consent of the author(s) and/or copyright holder(s), other than for strictly personal, individual use, unless the work is under an open content license (like Creative Commons). Disclaimer/Complaints regulationsIf you believe that digital publication of certain material infringes any of your rights or (privacy) interests, please let the Library know, stating your reasons. In case of a legitimate complaint, the Library will make the material inaccessible and/or remove it from the website. Please Ask the Library: http://uba.uva.nl/en/contact, or a letter to: Library of the University of Amsterdam, Secretariat, Singel 425, 1012 WP Amsterdam, The Netherlands. You will be contacted as soon as possible. Crigler-Najjar disease is extremely low, approximately (Gunn rats). The aim of this study was to evaluate the 1:1,000,000. 3 Until about 20 years ago, most patients effect of oral calcium phosphate supplementation on with type I disease died at an early age because of the plasma bilirubin levels in patients with Crigler-Najjar development of kernicterus, and only few patients with disease. Methods: A placebo-controlled, double-blind, type II disease were reported to live without complicacrossover design was used. Eleven patients, 2-42 tions into the sixth decade. 4 Since the introduction of years of age, participated. The group included 5 paphototherapy during the early 1970s, 5 most patients surtients with type I disease who were all treated with phototherapy and 6 patients with type II disease who vive childhood, but development of neurological disorwere primarily treated with phenobarbital. In addition ders at a later age has been described. 6 In The Netherto plasma bilirubin levels, dietary intake and urinary lands, 19 patients with this disease are known, 9 of them and fecal excretion of calcium and phosphate were with type I and 10 with type II disease. The patients Despite the fact that the immediate risk of kernicterus and death is greatly diminished since the introduction of phototherapy, a lot of problems remain for the pa-C tients. For instance, all type I patients have skin problems rigler-Najjar disease, first described in 1952, 1 is an autosomal recessive inherited disorder caused caused by the phototherapy. The skin is fragile, easily by a deficiency of bilirubin-uridine 5 -diphosphate...

We studied the effect of parental educational level (PEL), an indicator of socio-economic status (SES), on survival of children with acute lymphoblastic (ALL) and non-lymphoblastic leukaemia (ANLL). All children with ALL and ANLL diagnosed in The Netherlands in the period 1973-1979, registered by the Dutch Childhood Leukaemia Study Group and followed until 1991 were included. Bone marrow and blood smears had been uniformly classified in a central laboratory; cases with acute lymphoblastic leukaemia (ALL) were subdivided into standard risk (SR) and high risk (HR). PEL, assessed as a risk indicator in a separately conducted population-based case-control study of the same children (response rate: 88%), was divided into low, when neither of the parents had more than elementary school or lower vocational education, and high when either had more. Children with SR ALL of high PEL parents had a slightly higher 10-year survival rate than of low PEL parents (58% versus 54%, P = 0.25), whereas survival for the latter increased more (P = 0.06) from a lower level in the period 1973-1975. However, children of low PEL parents with HR ALL and ANLL had a higher 10-year survival rate compared with children of high PEL parents (P = 0.10 and 0.22, respectively). Children without information on PEL, non-responders, migrants and with missing values exhibited slightly worse survival rates. The influence of PEL on survival of acute leukaemia in children in The Netherlands during 1973-1979 appeared small or even equivocal. Small differences in SES and optimal geographic and financial access to care, delivered through national treatment protocols, may be responsible for these results.

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