Four cases in particular stood out to me today that sparked me to further research the interesting conditions; they each occurred in babies that are currently staying at the Le Bonheur NICU. The first baby was born with ambiguous genitalia, meaning that after birth, the sex of the baby could not be determined. Mayo Clinic defines ambiguous genitalia: "Ambiguous genitalia is a rare condition in which an infant's external genitals don't appear to be clearly either male or female. In a baby with ambiguous genitalia, the genitals may not be well-formed or the baby may have characteristics of both sexes. The external sex organs may not match the internal sex organs or genetic sex." Because I have personally never heard the term "ambiguous genitalia" before, I was interested in learning more about a foreign topic to me, and additional research proved to help me understand this term.
Another interesting case that caught my eye was a patient who has Smith-Lemli-Opitz syndome, a syndrome that even Naudia did not know an extensive amount of knowledge about. Because Naudia wanted to learn more about the syndrome before visiting the patient, we both decided it would be a good idea to begin researching Smith-Lemli-Opitz syndrome, and we discovered that Genetics Home Reference describes it: "Smith-Lemli-Opitz syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by distinctive facial features, small head size (microcephaly), intellectual disability or learning problems, and behavioral problems." Additional information also showed that this syndrome can cause malformations of the genitalia, which could explain the ambiguous genitalia observed. It is also common for patients to have fused second and third toes (syndactyly), and some have extra fingers or toes (polydactyly).
Though the word "neurofibromatosis" seemed daunting at first, a little research about the genetic disorder proved to help me understand this condition that affects approximately 1 in 25,000 people. Neurofibromatosis is a genetic disorder that causes tumors to form on nerve tissue, and Mayo Clinic states that "complications of neurofibromatosis can include hearing loss, learning impairment, heart and blood vessel (cardiovascular) problems, loss of vision, and severe pain." NF can also affect the development of non-nervous tissues such as bones and skin, and the condition causes tumors to grow anywhere on or in the body.
The last case I decided to dig a little bit more deeply into was a newborn baby born with a congenital diaphragmatic hernia (CDH), which is according to Healthline is "a defect in the baby’s diaphragm allows one or more of their abdominal organs to move into the chest and occupy the space where their lungs should be. As a result, the baby’s lungs can’t develop properly. In the majority of cases, this affects only one lung." Each of these cases interested me greatly, and after further research, I feel as if I have a better understanding of these unique medical conditions.
Sources:
-http://www.mayoclinic.org/diseases-conditions/ambiguous-genitalia/basics/definition/con-20026345
-https://ghr.nlm.nih.gov/condition/smith-lemli-opitz-syndrome
-http://www.mayoclinic.org/diseases-conditions/neurofibromatosis/home/ovc-20167893
http://www.healthline.com/health/diaphragmatic-hernia#Overview1
Another interesting case that caught my eye was a patient who has Smith-Lemli-Opitz syndome, a syndrome that even Naudia did not know an extensive amount of knowledge about. Because Naudia wanted to learn more about the syndrome before visiting the patient, we both decided it would be a good idea to begin researching Smith-Lemli-Opitz syndrome, and we discovered that Genetics Home Reference describes it: "Smith-Lemli-Opitz syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by distinctive facial features, small head size (microcephaly), intellectual disability or learning problems, and behavioral problems." Additional information also showed that this syndrome can cause malformations of the genitalia, which could explain the ambiguous genitalia observed. It is also common for patients to have fused second and third toes (syndactyly), and some have extra fingers or toes (polydactyly).
Though the word "neurofibromatosis" seemed daunting at first, a little research about the genetic disorder proved to help me understand this condition that affects approximately 1 in 25,000 people. Neurofibromatosis is a genetic disorder that causes tumors to form on nerve tissue, and Mayo Clinic states that "complications of neurofibromatosis can include hearing loss, learning impairment, heart and blood vessel (cardiovascular) problems, loss of vision, and severe pain." NF can also affect the development of non-nervous tissues such as bones and skin, and the condition causes tumors to grow anywhere on or in the body.
The last case I decided to dig a little bit more deeply into was a newborn baby born with a congenital diaphragmatic hernia (CDH), which is according to Healthline is "a defect in the baby’s diaphragm allows one or more of their abdominal organs to move into the chest and occupy the space where their lungs should be. As a result, the baby’s lungs can’t develop properly. In the majority of cases, this affects only one lung." Each of these cases interested me greatly, and after further research, I feel as if I have a better understanding of these unique medical conditions.
Sources:
-http://www.mayoclinic.org/diseases-conditions/ambiguous-genitalia/basics/definition/con-20026345
-https://ghr.nlm.nih.gov/condition/smith-lemli-opitz-syndrome
-http://www.mayoclinic.org/diseases-conditions/neurofibromatosis/home/ovc-20167893
http://www.healthline.com/health/diaphragmatic-hernia#Overview1