Nager anomaly with severe facial involvement, microcephaly, and mental retardation.
A girl is reported who has severe facial abnormalities with preaxial anomalies of upper and lower limbs indicative of Nager syndrome. Additional findings include marked microcephaly, mental retardation, and normal hearing.
Palomeque
A
A
Department of Pediatrics, Hospital Clinic, University of Barcelona, Spain.
Pastor
X
X
Ballesta
F
F
D000015:Abnormalities, Multiple; D000293:Adolescent; D003103:Coloboma; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D008607:Intellectual Disability; D008831:Microcephaly