Limb anomalies in the CHARGE association.
We report a male infant with iris coloboma, choanal atresia, postnatal retardation of growth and psychomotor development, genital anomaly, ear anomaly, and anal atresia. In addition, there was cutaneous syndactyly and nail hypoplasia of the second and third fingers on the right and hypoplasia of the left second finger nail. Comparable observations have rarely been reported and possibly represent genetic heterogeneity.
Meinecke
P
P
Altonaer Kinderkrankenhaus, Hamburg, West Germany.
Polke
A
A
Schmiegelow
P
P
D000015:Abnormalities, Multiple; D001006:Anus, Imperforate; D002754:Choanal Atresia; D003103:Coloboma; D002658:Developmental Disabilities; D005385:Fingers / Q000002:abnormalities*; D005837:Genitalia, Male / Q000002:abnormalities; D006801:Humans; D007223:Infant; D007498:Iris / Q000002:abnormalities; D008297:Male; D009264:Nails, Malformed; D013576:Syndactyly; D013577:Syndrome