Lutz-Richner and Landolt syndrome
Biliary malformation with renal tubular insufficiency. Familial. Inheritable malformation syndrome with hypoplasia of the external and internal bile ducts, proximal tubulusinsufficiency of the Fanconi’s syndrome type, skeletal malformations and muscular hypotonia. Neonatal jaundice. Failure to thrive. Repeated infections. Occasionally micrognathia, low-set ears, highly arched palate, barrel chest, club feet, hypotonia. Death occurs within few months. Inheritance is assumed to be autosomal recessive. An X-chromosomal inheritance is also a possibility, however.
Lutz-Richner and Landolt in 1973 described 2 male sibs with second-cousin parents and an identical syndrome leading to death at the age of about 4 months.
- A. R. Lutz-Richner, R. F. Landolt:
Familiäre Gallengangsmissbildungen mit tubulärer Niereninsuffizienz.
Helvetica Paediatrica Acta, Basel, 1973, 28: 3-12.
- M. A. Mikati, A. Y. Barakat, H. B. Sulh, V. M. Der Kaloustian:
Renal tubular insufficiency, cholestatic jaundice, and multiple congenital anomalies - a new multisystem syndrome.
Helvetica Paediatrica Acta, Basel, 1984, 39: 463-471.
- F. Papadia, L. Pollice, B. Natale, R. Bellantuono, P. Conti, F. Carnevale.
Biliary malformation with renal tubular insufficiency in two male infants: third family report.
Clinical Genetics, Copenhagen, 1996, 49: 267-270.