| Remarks |
Clinically affected; diagnosed at age 20 days; symptom onset at birth; prenatal: polyhydramnios; intrauterine growth restriction (IUGR); discordant growth between twins; born at 36 weeks gestation with normal female twin sibling; weight: 1.880 kg, 3rd percentile; length: 42.0 cm, 3rd percentile; head circumference: 31 cm, 10th percentile; apgars: 8 at 1 min and 8 at 5 min; respiratory distress; hypotonia and feeding difficulty noted shortly after birth; physical examination: marked bitemporal narrowing; low anterior and posterior hairline; short broad neck; thin hair, flat occiput, almond shaped eyes; upslanting palpebral fissures; epicanthic folds; inner canthal distance of 2.9 cm, 70th percentile; interpupillary 5.4 cm, 80th percentile; outer canthal distance 8.5 cm, 90th percentile; palpebral fissure length 2.4, 10th percentile; flat nasal bridge with flat nasal tip; thin downturned upper lip; sticky, dry saliva; laryngomalacia; mild rhinitis; mild turbinate hypertrophy; mild narrowing of the left nasal bones; ear measurements: 5.5 on the right, 5.9 on the left, 50th and 70th percentile; ears are posterior angulated and cup shaped; hypoplasia of the labia minora; Tanner stage I; minimal clinodactyly of 5th digits bilaterally; tapering fingers with slightly hypoplastic nails; hand length: 12.6 cm (50%); middle finger 5.5 cm (50%); foot length is 16.8 cm (25%); generalized hypertrichosis of the arms, trunk, and back; abdominal/central fat distribution; right thigh larger than left; Age 5: height: 111.9 cm, 50th percentile; weight: 18.7 kg, 50th percentile, BMI: 14.9, 50th percentile; increased appetite; combined obstructive and central sleep apnea; developmental delay-smiled at 8 weeks; held head up at 6 months; sat at 1.5 years, walked at 2.5 years; speech delay-babbled at 6 months; first meaningful words at 2.5-3 years; compulsive behaviors; tantrums; FISH (fluorescent in situ hybridization) and MLPA (multiplex ligation-dependent probe amplification): positive for Prader-Willi/Angelman syndrome region (15q11-13) with type 1 deletion on chromosome 15; treatments: G-tube supplementation (Neosure) as newborn; Poly-Vi-Sol vitamins (started at 4 months), L-carnitine (started at 3 months); growth hormone treatment (Nutropin) at 5 1/2 months of age; therapy: physical therapy (started at 3-4 months of age), speech language therapy (started at 1.5 years of age). |