A MALE INFANT was born at 35 weeks' gestation with a chromosomal deletion from 13q14 to 13q32. Results of physical examination showed multiple cardiac anomalies including a ventriculoseptal defect, supravalvular aortic narrowing, and patent foramen ovale; growth deficiency; fifth-finger clinodactyly; overriding second toe bilaterally; umbilical and inguinal hernias; bilateral hydronephrosis; micropenis with undescended testes; low-set ears and a hearing deficit; micrognathia; and a high palate. Bilateral hip dislocation, simian creases, and a right accessory nipple were also noted. Magnetic resonance imaging of the brain detected a partial absence of the corpus callosum, agenesis of the septum pellucidum, asymmetric thalami, and holoprosencephaly.
Lisa S. Schocket, Katherine L. Beaverson, Indira S. Rollins, David H. Abramson. Bilateral Retinoblastoma, Microphthalmia, and Colobomas in the 13q Deletion Syndrome. Arch Ophthalmol. 2003;121(6):916–917. doi:10.1001/archopht.121.6.916