A new case of Okamoto syndrome.
We report a 6 month old boy with congenital hydronephrosis, cleft palate, severe hypotonia, congenital heart defect, developmental delay, and characteristic facial features with an open mouthed appearance and full lower lip, who we believe is the third reported case of Okamoto syndrome. Okamoto syndrome is a recently described distinctive multiple congenital anomaly syndrome encompassing the above features for which an etiologic factor has not yet been identified. Our patient also had idiopathic splenomegaly and non-specific MRI changes in the brain, not reported in the first two cases.
Wallerstein
Robert
R
Genetics Service, Joseph M. Sanzari Children's Hospital, Hackensack University Medical Center, Hackensack, New Jersey, USA Department of Pediatrics, New York University Downtown Hospital, New York, New York, USA Center for Human and Molecular Genetics, University of Medicine and Dentistry of New Jersey, Newark, New Jersey, USA.
Shih
Ling-Yu
LY
Fong
Mei-Heung
MH
Zheng
Sharon
S
Poon
Eric
E
D000015:Abnormalities, Multiple / Q000097:blood / Q000235:genetics / Q000473:pathology*; D001921:Brain / Q000473:pathology; D002972:Cleft Palate / Q000473:pathology*; D002658:Developmental Disabilities / Q000473:pathology; D003937:Diagnosis, Differential; D019066:Facies; D006330:Heart Defects, Congenital / Q000473:pathology; D006801:Humans; D006869:Hydronephrosis / Q000151:congenital*; D007223:Infant; D008297:Male; D009123:Muscle Hypotonia / Q000151:congenital*; D013163:Splenomegaly / Q000473:pathology; D013577:Syndrome