Clinical Genetics and Dysmorphology Case
A newborn female weighs 4.6 kg. She has a large tongue and an umbilical hernia.
She is noted to have facial hemangiomata, pits on the backs of her ear helices, and double creases in her earlobes. Abdominal ultrasound reveals enlarged, lobulated kidneys.
Her likelihood of having cognitive impairments is most related to the presence of:
D. Obstructive apnea
E. Wilms tumor
The correct answer is A. The child has Beckwith–Wiedemann syndrome. These patients generally do quite well cognitively unless there are problems with untreated hypoglycemia in infancy. The other features on the list are possible complications of Beckwith–Wiedemann, but have not been associated with the development of cognitive impairment. (Chapter 176: "Syndromes of Multiple Congenital Anomalies/Dysplasias: Introduction" and Chapter 177: "Craniofacial Disorders: Introduction")