A new recessive syndrome of unusual facies and multiple structural abnormalities.
Two sibs with a similar pattern of dysmorphic facial features and multiple structural abnormalities are reported. Both had a normal karyotype. The parents are first cousins and neither shows any stigmata of the disorder. In view of the consanguinity and pattern of malformations, autosomal recessive inheritance seems likely.
Thakker
Y
Y
Department of Medical Genetics, St Mary's Hospital, Manchester.
Donnai
D
D
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D001921:Brain / Q000002:abnormalities; D003241:Consanguinity; D004062:DiGeorge Syndrome / Q000175:diagnosis; D003937:Diagnosis, Differential; D005145:Face / Q000002:abnormalities*; D005260:Female; D005315:Fetal Diseases / Q000235:genetics / Q000473:pathology; D005808:Genes, Recessive; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009133:Muscular Atrophy / Q000175:diagnosis / Q000235:genetics*; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis; D014781:Viscera / Q000002:abnormalities