Branchial dysplasia, mental deficiency, club feet, and inguinal herniae: a report of two further cases associated with paucity of interlobular bile ducts.
The observation of two new cases in a previously reported family has brought about a change in the delineation of the syndrome initially defined. To the abnormalities already described (branchial dysplasia, mental deficiency, club feet, inguinal herniae) must be added a paucity of interlobular bile duts; the relationship between this new syndrome and the Alagille syndrome requires reconsideration.
Lambert
J C
JC
Unité de Génétique Médicale, Hôpital de Cimiez, Nice, France.
Saint-Paul
M C
MC
Bastiani
F
F
Paquis
V
V
Saunieres
A M
AM
D001656:Biliary Atresia / Q000150:complications / Q000235:genetics*; D005532:Foot Deformities, Congenital / Q000150:complications / Q000235:genetics*; D005808:Genes, Recessive; D006552:Hernia, Inguinal / Q000150:complications / Q000235:genetics*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability; D008297:Male; D013577:Syndrome