Congenital Disorders

Question 1

annular pancreas

Answer 1

abnormal rotation of the ventral bud of the pancreas around the foregut during embryonic development, ring of pancreatic tissue persists around the duodenum constricting it, polyhydramnios

Question 2

branchial arch defects

Answer 2

second most common congenital lesions of the head and neck, may present as cysts/ sinus tracts/ fistulae/ or cartilaginous remnants, second branchial arch anomalies are 95% of cases

Question 3

cleft lip/palate

Answer 3

genetic predisposition and in-utero exposure to teratogens (nicotine, alcohol, antiepileptic drugs) arrests the fusion of the facial processes, failure of fusion of maxillary prominence with medial nasal prominence causes CL, palatine prominences causes CP, unilateral/bilateral/complete/incomplete

Question 4

diaphragmatic hernia

Answer 4

protrusion of intra-abdominal contents thru an abnormal hole in diaphragm, common, incomplete fusion of embryonic components of diaphragm, Bochdalek hernias most common (left-sided postero-lateral), Morgagni hernias (anterior), neonates present postnatally w/ respiratory distress and absence of breath sounds in ipsilateral chest, severe pulmonary hypoplasia, persistent pulmonary hypertension, and poor surfactant production

Question 5

duodenal atresia

Answer 5

complete occlusion or absence of the duodenal lumen, present with signs of obstruction/ distended upper abdomen/ delayed meconium passage/ vomiting, bilious vs nonbilious vomiting for distal vs proximal to major duodenal papilla

Question 6

Hirschsprung disease

Answer 6

congenital aganglionic megacolon, inherited disorder affecting newborns, usually rectosigmoid region, fails to relax leading to functional intestinal obstruction, first sign is when newborn fails to pass meconium w/i 48 hours after birth, onset and severity vary according to length of aganglionic segment

Question 7

holoprosencephaly

Answer 7

failure of the prosencephalon (anterior portion of embryonic brain) to develop into 2 cerebral hemispheres, associated with trisomy 13 (patau syndrome)

Question 8

horseshoe kidney

Answer 8

fusion of both kidneys into horseshoe shape, kidney function not impaired, increased risk of ureteropelvic junction obstruction and kidney stones w/ subsequent inflammation, increased w/ chromosomal aneuploidy (trisomies 13, 18, 21, Turner, etc), normal ascent interrupted as fused kidney gets caught on the inferior mesenteric artery

Question 9

hypospadias

Answer 9

common congenital malformation, incorrect positioning of external urethral meatus due to failure of urethral folds and foreskin to fuse on ventral penis, etiology: genetic/ endocrine/ environmental factors, abnormal foreskin, ventral penile curvature, 2 meatal openings, proximal hypospadias associated w/ bifid scrotum and penoscrotal transposition, associated w/ inguinal hernias and cryptorchidism, circumcision is contraindicated w/ hypospadias that include the foreskin (may be needed for skin flap for urethroplasty)

Question 10

neural tube defects

Answer 10

incomplete closure in first weeks of embryonal development, spina bifida, meningomyelocele, anencephaly, encephalocele, etiology: folate deficiency/ drugs that interfere with folate metabolism (methotrexate, anticonvulsants, sulfonamides, trimethoprim)/ pregestational diabetes/ obesity/ fever during 1st trimester, fetal causes: chromosomal aberrations/ amniotic band syndrome/ chiari II malformation

Question 11

Pierre Robin sequence

Answer 11

set of abnormalities causing fetal oral and maxillofacial malformations, CP, glossoptosis (retraction of tongue in pharynx), mandibular retrognathia, micrognathia, possible intellectual disability, diagnose with FISH

Question 12

posterior fossa (DWM)

Answer 12

Dandy-Walker Malformation, failure of 4th ventricle to open, leads to persistence of Blake’s pouch (cyst in 4th ventricle) and cerebellar vermis hypoplasia, causes variety of neurologic abnormalities and noncommunicating hydrocephalus, extracranial abnormalities

Question 13

tracheoesophageal (TE) fistula

Answer 13

abnormal connection between esophagus and trachea, the wall between the esophagus and trachea forms at about 4-8 weeks after conception, not believed to be inherited but seen with other birth defects such as trisomy 13/18/21/ digestive tract problems (diaphragmatic hernia, duodenal atresia, imperforate anus)/ heart problems (ventricular septal defect, tetralogy of Fallot, patent ductus arteriosus)/ kidney and urinary tract problems (horseshoe or polycystic kidney, absent kidney, hypospadias)/ muscular or skeletal problems/ VACTERL syndrome

Question 14

VACTERL

Answer 14

(Vertebral, Anal, Cardiac, TE fistula, Renal, and Limb abnormalities), due to defect during development of embryonic mesoderm, must have at least 3 of these features, defects in the bones of the spine are in 60-80%, narrowing or blockage of anus in 60-90%, heart defects in 40-80%, tracheo-esophageal fistula in 50-80%, renal anomalies in 50-80%, limb abnormalities in 40-50%

Question 15

ventral wall

Answer 15

gastroschisis, oomphalocele, ectopia cordis, bladder exstrophy, cloacal extrophy

Question 16

deformation

Answer 16

change in shape/ distortion

Question 17

disruption

Answer 17

process of breaking apart or rupturing

Question 18

dysplasia

Answer 18

presence of abnormal cells, not cancer but can sometimes become cancer

Question 19

malformation

Answer 19

structural defect due to abnormal embryonic or fetal development

Question 20

syndrome

Answer 20

recognizable complex of symptoms and physical findings indicating a specific condition for which a direct cause is not necessarily understood

Question 21

sequence

Answer 21

series of ordered consequences due to a single cause