Article
A novel mutation in CDKN1C in sibs with Beckwith-Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases.
American journal of medical genetics. Part A - 1 Jan 2013
Kantaputra Piranit Nik, Sittiwangkul Rekwan, Sonsuwan Nuntigar, Romanelli Valeria, Tenorio Jair, Lapunzina Pablo
Abstract excerpt
We report on two daughters and a son of a Thai family who were affected with BWS. Their clinical findings consist of cleft palate, omphalocele, anterior ear creases, indented lesions on the posterior rim of the helix, macroglossia, posterior crossbite, and anterior open bite. The younger daughter and son had newly recognized findings of the BWS including sensorineural hearing loss and supernumerary flexion...
Topics
- Beckwith-Wiedemann Syndrome
- Child
- Child, Preschool
- Cleft Palate
- Cyclin-Dependent Kinase Inhibitor p57
- Female
- Hearing Loss, Sensorineural
- Hernia, Umbilical
- Humans
- Infant
- MAP Kinase Signaling System
- Macroglossia
- Male