​​​​​Case Study (60): This is the case of Kimmy, a newbornfemale from Tondo, Manila, who was seen last January 2020 becauseof physical deformities. Kimmy was born to a 35-year-old G3P3(3003) mother who had prenatal check-up (PNCU) at the local healthcenter for the first 5 months of pregnancy before moving to agovernment hospital for her PNCU for the rest of her pregnancy. Shehad cough and colds during the second trimester and a recurrenturinary tract infection during the third trimester of pregnancy. Anultrasound done during the 5th month revealed polyhydramnios. Hermother also experienced preterm labor at 7 months and wassubsequently admitted at the hospital for observation. She wasreleased eventually. The mother denies any family history ofdiseases and malformations. Kimmy was delivered full term vianormal spontaneous delivery and assisted by an obstetrician. Thefour core steps of Unang Yakap were observed. At birth, she hadgood cry and good activity with an APGAR score of 8 and 9. Uponphysical examination, the following were noted: frontal bossing,low set ears, micrognathia, overlapping of the fingers, ambiguousgenitalia, and rocker-bottom feet. The rest of the physicalexamination was normal. Kimmy was eventually discharged and wasadvised to undergo laboratory tests including karyotyping. Uponfollow-up at the out-patient department, complete blood countshowed normal levels. Kimmy’s mother showed the following result tothe doctor:
- What is your diagnosis and what are the salient features of thecase that made you arrive at such diagnosis?
- What are the different clinical manifestations of thediagnosis?
- Are there laboratory procedures that can be done to detectgenetic disorders intrauterine? If yes, please enumerate andexplain these procedures.
- How is this genetic disorder different from the other geneticdisorders?
- What is the prognosis of Kimmy?
