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Dysmorphology
Imprinting Disorders
| Question | Answer |
|---|---|
| PWS | 75% del 15q11-q13, 20% Maternal UPD, 5% mutation in imprinting center |
| Dx criteria for PWS: Birth to 2 years | Hypotonia with poor sucking, mother may have noted decreased fetal activity and baby is often breech |
| Dx criteria for PWS: 2-6 years | Hypotonia with poor sucking, global developmental delay; poor growth |
| PWS: 6-12 years | Instatiable appetite; chronic overeating; obesity; diabetes mellitus; behavioral issues (temper tantums; stubbornness; compulsive behaviors; stealing and lying) |
| Dx criteria for PWS: 13 yrs-adulthood | Cognitive impairment (mild MR); excessive eating with central obesity; hypothalamic hypogonadism and/or typical behavioral problems |
| Additional features of PWS: | Infantile lethargy (improves with age); distinctive faces, short stature; small hands & feet; usually fair skin or light colored hair; underdeveloped genitals; delayed or incomplete puberty; may be infertile; myopia; thick saliva; speech problems |
| Some unusual findings with PWS | SMALL HANDS & FEET, high pain threshold; decreased vomiting; scoliosis and/or kyphosis; early adrenarche; osteoprosis; jigsaw puzzles; normal neuromuscular studies |
| Compared to PWS patients with del 15q, patients with UPD 15 are... | less likely to be hypopigmented or have the typical facial features. Don't usually show the skin picking, jigsaw puzzle skills, or high pain threshold. Also, they are more likely to have psychotic illness. |
| Characteristic PWS face | 1. Narrow temple distance and nasal bridge 2. Almost-shaped eyes, Mild strabismus 3. Thin upper lip, downturned mouth 4. Overweight |
| Clinical testing for PWS | 1. Methylation analysis 2. Mutation ID using FISH 3. Imprinting defect... cannot be defected with sequence analysis |
| Angelman etiology | 15q11-13 deletion (always maternally derived is missing/deleted) 2% of the time paternal UPD, 2% of time mutation in the imprinting center, 5-10% of time translocation |
| Patients with chromosome 15 deletions are more severely affected with... | seizures, microcephaly, and hypopigmentation |
| The laughter of AS children is not associated with happiness but rather... | is suggestive of a defect at the brainstem level |
| Interesting features in children with AS | sleeping problems, sensitive to heat, left hand preference |
| Developmental delays in children with AS are often first noticed around... | 6 months of age |
| Clinical features of AS do not manifest until after... | one year of age |
| What can be associated with poor weight gain in AS patients? | Gastroesophageal reflux |
| BWS fast facts | 21% infant mortality rate possibly due to increased likelihood for prematurity; 6.5% frequency of tumors; increased risk of malignancy associated with children who have hemihypertrophy |
| BWS etiology | 10-15% cases AD with preferential maternal transmission; loss of imprint in LIT1 accounts for 40-50% of BWS cases. |
| Features of BWS | Macrosomia, Macroglossia, large birth wt and length; embyonal tumors; omphalocele or umbilical hernia; neonatal hypoglycemia; advanced bone age; ear creases or pits; maloclussion; renal anomalies; nevus flammeus; Wilms tumor and hepatoblastoma |
| BWS genes | DMR2, H19 (DMR1), CDKN1C, KCNQ1OT1 (DMR2) |
| BWS cytogenetics testing | translocations, inversions of maternal chromosome 11, dup of paternal chromosome 11 |
| BWS second tier testing | methylation (DMR1 and 2) |
| BWS third tier testing | FISH |
| Treatment for BWS kids... | special feeding techniques; hydrocortisone analogue therapy for hypoglycemia (1-4 months); Renal US and AFP levels to rule out Wilms tumor and hepatoblastoma |
Created by:
KChatham
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