Megalocornea, macrocephaly, mental and motor retardation: MMMM syndrome (Neuhäuser syndrome) in two sisters with hypoplastic corpus callosum.
We report two sisters with Neuhäuser [megalocornea, macrocephaly, mental and motor retardation MMMM] syndrome. They also had hypotonia, incomplete cleft palate, bifid uvula, depressed nasal bridge, epicanthal folds, hypoplastic labia major, micrognathia and pectus excavatum. Their brain magnetic resonance imaging showed cortical atrophy, large fourth ventricle and hypoplasia of corpus callosum. These findings have not been reported before in MMMM syndrome. Prenatal sonography could have been helpful if the mother had asked for genetic counseling given the presence of hypoplasia of corpus callosum and Dandy-Walker variant.
Balci
Sevim
S
Department of Pediatrics, Hacettepe University, Faculty of Medicine, Ankara, Turkey.
Tekşam
Ozlem
O
Gedik
Sansal
S
D061085:Agenesis of Corpus Callosum; D003241:Consanguinity; D003315:Cornea / Q000002:abnormalities*; D017809:Fatal Outcome; D005260:Female; D006257:Head / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability; D009123:Muscle Hypotonia; D013577:Syndrome