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Peds 4 (Genetic d/o)

Step-2

QuestionAnswer
What is "craddle cap" and what is the tx? seborrheic dermitis, tx=selenium sulfide shampoo or topical antifungals
What is the cause of bilious emesis in a newborn within hours after the first feeding? doudenal atresia
What are the 2 most common primary brain tumors in adults? MGM Studios: Metastasis, Glioblastoma mutiforma(mc adult brain tumor), Meningioma (2nd mc brain tumor), Swannoma
What are the 3 mc primary brain tumors in children? Astrocytoma, medulloblastoma, ependymoma
If female child is in the 80th percentile for height and the 25th percentile for head circumference, what chromosomal abnormality should you suspect? 47XXX
What malignancy is associated with down syndrome? ALL
What GI complications are associated with down syndrome? duodenal atresia, annular pancreas, celiac dz, hirschsprung dz
What is the mcc of congenital mental retardation in men? fragil X syndrome
What is the mc malformation of the head and neck? unilateral cleft lip
What features are characteristic of Fetal alcohol syndrome (FAS)? Short palpebral features, thin upper lid, smooth philtrum, flattened midface.
What congenital defect is associated with lithium use during pregnancy? ebstein anomaly
What are the differences in presentation between a brachial cleft cyst and a thyroglossal duct cyst? brachial cleft cyst: present in lateral neck. Thyroglossal duct cyst: midline neck, moves with swallowing
What are the common possible presenting features of tuberous sclerosis? distinctive brown, fibrous plaque on the forehead seen in infancy, ash leaf spots, shagreen patch(leathery cutaneous tickening usually on lower trunk), facial angiofibromas, seizures, MR.
Which glycogen storage dz matches the following statement: lactic acidosis, hyperlipidemia, hyperuricemia (gout) type I (Von Gierke)
Which glycogen storage dz matches the following statement: diaphragm weakness--> respiratory failure type II (Pompe)
Which glycogen storage dz matches the following statement: increased glycogen in liver, severe fasting hypoglycemia type I (Von Gierke)
Which glycogen storage dz matches the following statement: hepatomegaly, hypoglycemia, hyperlipidemia (normal kidneys, lactate, and uric acid) type III (cori)
Which glycogen storage dz matches the following statement: painful muscle cramps, myoglobinuria with strenuous exercise type V (mc Ardle)
Which glycogen storage dz matches the following statement: severe hepatosplenomegaly, enlarged kidneys type I (Von Gierke)
What genetic d/o matches the following description: cleft lip/palate, life expectancy <1 yr, polydactyly trisomy 13
What genetic d/o matches the following description: high-pitched cat-like cry Cri du Chat
What genetic d/o matches the following description: Elfin facial features, cardiac defects Williams syndrome
What genetic d/o matches the following description: tall, thin man with hynecomastia and testicular atrophy Klinefelters
What genetic d/o matches the following description: obesity and overeating Prader-Willi
What genetic d/o matches the following description: Micrognathia, life expectancy <1 yr, rocker-bottom feet Trisomy 18
What genetic d/o matches the following description: Happy mood, inappropriate laughter, ataxic gait Angelman syndrome
What genetic d/o matches the following description: Large ears, MR, macroorchidism Fragil X
What genetic d/o matches the following description: MR, simian crease, GI and cardiac defects Trisomy 21
What genetic d/o matches the following description: Short stature, infertility, coarctation of the aorta Turner syndrome
A child presents with short palpebral fissures, a thin upper lip, smooth philtrum, and a flattened midface. He is in below the 10th percentile for ht. and wt., and his IQ is 65. What is the cause of his abnormalities? What is the prevention of this? FAS. Refrain from using ETOH durig pregnancy, DUH!!!
What is the WAGR syndrome? Wilms tumor, aniridia, genital abnormality, retardation
Created by: shelybel
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