Wolf Hirschhorn Syndrome Case Study

A 3 month old boy presents to with a history of reoccurring seizures. A physical examination shows that he is underweight. The appearance and head measurements show that he has growth deficiency and microcephaly. He shows characteristics of facial dimorphism a “Greek helmet” like face, his eyes are widely spaced with high arched eyebrows and micrognathia and club foot. The mother explains that she has been trouble feeding him. An infant cognitive test was performed and the results showed low intellectual ability. After assessing the symptoms the neurologist decides that the kid is very likely to have Wolf-Hirschhorn syndrome (WHS). The neurologist decides to perform a chromosomal microarray (CMA), and Fluorescence in situ hybridization (FISH) test. WHS is seen in 1/50,000 newborns, it typically presents with both prenatal and postnatal growth deficiencies.[1] It typically presents with severe mental retardation and seizures within the first 2 years. Other characteristics include facial dimorphism such as “Greek helmet” like

In other cases the cause may be due to a translocation in the parental karyotype in chromosome 4, causing the loss of the WHS critical region of chromosome 4 in the offspring. The deletion size on the terminal part of chromosome 4 may vary. The WHSC1 encodes for DNA binding proteins and in the absence of it, other pleiotropic effects may result. This region is also responsible for chromatin remodeling which will cause insufficient regulation of other genes. LETM1 is a gene found within the WHSCR-2.[3,5] This gene is involved in Ca binding signaling, and is responsible for seizures.[4] A portion the WHSC1 is also found within the WHSCR-2 and is believed to be responsible for some father facial