Dysmorphic Child Flashcards
What is clinodactyly
Incurving of one of the digits
What is brachydactyly
Excessive shortening of hand and food bones resulting in box-like appearance
VATER
Vertebral Anal Trachea Esophageal Radius/renal
Screening for downs
Low AFP in triple screen
What are brush field spots and what are they associated with?
White/grey spots on periph of iris … Downs
MC GI anomaly in pts with downs + pathognomonic finding
Duodenal atresia w/ double bubble sign (vomits immediately after eating)
MC genetic alteration causing downs
Non disjunction (> translocations and mosaics) **translocations means parents are likely to have another child with downs
Downs have higher risk of what neoplasm
Leukemia
What genetic type of downs can have near normal intelligence
Mosaics
What type of regular/periodic screens should be done on downs child?
Hearing
Thyroid
Vision
Rocker bottom feet, inguinal hernia, cleft lip and palate, micrognathia + chrom abn
Edwards (18)
SGA, microcephalic, sloping forehead, cutis aphasia of scalp (missing portion of skin and hair), polydactyly, micropthalmia, omphalocele + chrom abn
Patau (13) **cutis aplasia and polydactyly is characteristic
Downs kid wants to play sport. What kind of sports should they avoid (until r/o problem) and why?
Contact sports due to cervical spine instability (atlantoaxial)
