Clinical Correlates

Question 1

It is common developmental anomaly of the human forebrain and midface where the cerebral hemispheres fail to separate into distinct left and right halves. What is a known insufficiency that could cause this?

Answer 1

Haploinsufficiency for Sonic Hedhehog (SHH) is a cause of Holoprosencephaly

Question 2

A patient with PAX-3 defect leads to a patient with dystopia canthorum (lateral displacement of the inner corner of the eye), Pigmentary abnormalities, Congenital deafness, and limb abnormalities. What is the name of this syndrome?

Answer 2

Klein-Waardenburg Syndrome

Question 3

This is a paternally inherited disease which is found on chromosome 15. The symptoms include childhood obesity and hyperphagia, hypogonadotropic hypogonadism, small hands and feet, mental retardation, hypotonia

Answer 3

Prader-Willi Syndrome