Atypical macular coloboma (dysplasia) associated with familial juvenile nephronophthisis and skeletal abnormality.
A malformation association comprising bilateral atypical macular coloboma, familial juvenile nephronophthisis and mesomelic skeletal dysplasia of upper limbs with bilateral radiohumeral fusion is reported in two sisters. The association seems to represent a new, probably autosomal recessive, oculo-reno-skeletal syndrome.
Alsing
A
A
National Eye Clinic for the Visually Impaired, Hellerup, Denmark.
Christensen
C
C
D000293:Adolescent; D002648:Child; D003103:Coloboma / Q000150:complications*; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D006811:Humerus / Q000002:abnormalities*; D007674:Kidney Diseases / Q000150:complications*; D008266:Macula Lutea / Q000002:abnormalities*; D011866:Radioisotope Renography; D011884:Radius / Q000002:abnormalities*