Acro-oto-ocular syndrome: further evidence for a new autosomal recessive disorder.
We report on a patient born to consanguineous parents and presenting with pseudopapilledema, mixed hearing loss, and minor facial and limb anomalies. To our knowledge, there is just one similar description of this syndrome in three members of a Brazilian kindred whose parents were also consanguineous, suggesting autosomal recessive inheritance. We compare the findings of our patient with these previous reported cases and discuss the differential diagnoses of this new syndrome, which we suggest be named the acro-oto-ocular syndrome.
Bertola
D R
DR
Department of Pediatrics and Human Development, Michigan State University, East Lansing 48824-1317, USA.
Wolf
L M
LM
Toriello
H V
HV
Netzloff
M L
ML
D000293:Adolescent; D000328:Adult; D003241:Consanguinity; D005123:Eye / Q000473:pathology; D005145:Face / Q000002:abnormalities*; D005260:Female; D005808:Genes, Recessive; D006130:Growth Disorders / Q000235:genetics; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D007642:Keratosis / Q000235:genetics; D008297:Male; D009262:Nails / Q000473:pathology; D010211:Papilledema / Q000235:genetics; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*