Today I saw 3 patients.
1. A 15 months old girl with hemihypertrophy. Her right limbs were significantly thicker than that of the left side. The discrepancy is getting less pronounced with her growth. But still the girth of her right limbs is bigger than that of her left side. Since both legs are the same length, no surgery is needed up to now. Ultrasound detection showed no abdominal defects. Some of her signs are associated with Beckwith-Wiedemann syndrome. To determine if she has Beckwith-Wiedemann syndrome (chr 11), DNA test is ordered. In addition, to prevent the incidence of liver and kidney cancers, which is related to hemihypertrophy, AFP test and ultrasound test are also ordered. Of note, the disparity of limb girth could also be attributable to defective circulation. Just wait until the genetic results.
2. A 8 years old boy (proband) had multiple skeletal issues. He had bilateral club feet, which had been corrected by surgery. His femoral head was flattening. Besides physical problems, he had ADHD and learning disabilities. His mother was a smoker with half packet per day during pregnancy. Her ultrasound screening didn’t show club feet but small size of the baby. Her MS-AFP level was high but failed to follow up. She made it clear that his biological father better would not be involved. Hypertention, learning disability is running in her family.
This is an interesting case. Not only because it is not easy to figure out the pathogenesis, but also the psychosocial issues of the family. We divided the boy’s problems into 3 categories: brain, skeletal and muscle. For brain, seems no anatomical defects, so we recommended the boy to see developmental pediatrician in order to be correctly assessed. Regarding the skeletal issues, we need more x-rays, especially the hip part, to see is there any other bone problems. As for muscle, since the boy can walk, run and muscle tone is fine, we recommend a CK test. For DNA testing, we requested a genome wide array. Based on the result, we may test if the biological parents have the same mutation or variation.
3. This patient is a 9 year old girl. She was referred due to her ligament laxity and hallux deformity and flat feet. Laxity could be associated with joint problem, vascular issues and skin problem. The girl had none of them. Thus, the girl’s laxity seems not genetics related. She needs physical therapy.
4. Something I’ve learned. Do homework. Look at charts carefully and think about syndromes related to symptoms and signs. Ask specific questions other than standardized questions designed by each clinical site. For instance, laxity is related to joint issues. So ask questions such as if the patient has joint problems. Remember to ask when certain signs start to be noticed. Put parents’ height in pedigree. For some cases, maybe birth weight is also helpful.
