Answer to Question #237936 in Genetics for Pavan

Question

A boy born in 2008, who lives in the city of Samarkand, was under outpatient supervision.
The child was born in a closely related marriage (children of sisters). Height at birth 50 cm, weight 3,000 g, screamed and took the breast immediately. Psychomotor development is delayed. He was constantly under the supervision of a pediatrician, received a massage.
According to the parents, the patient complains of shortness, problems when walking. During the examination, it was found: height 76.0 cm, weight-10.8 kg.The growth zones are open, all the phalanges of the fingers are narrowed, shortened.

1. Your presumptive diagnosis. Justify your answer.
2. Using the OMIM database, determine the locus of the gene responsible for the development of this disease and explain the etiology.
3. Determine the type of inheritance of this disease, characterize it. Determine the possible genotypes of the parents and the child.
4. Determine the causes of this disease.
5. Name the methods used to diagnose this disease.

Answer 1

Facial nerve palsy due to birth trauma is the loss of controllable (voluntary) muscle movement in an infant's face due to pressure on the facial nerve just before or at the time of birth.