Abnormalities of the newborn – A comprehensive list for the Step 2 CK exam
Here’s an in-depth look at the most common abnormalities found in the newborn. For copyright reasons I cannot put all the pictures on the post, but they will all be available in the DOMINATE! The Step 2 CK Prep Guide
Abnormalities in the newborn:
There are many abnormalities of the newborn that should be recognizable. It is also important to know which are benign and which require further investigation.
|Red, sharply demarcated raised red lesions||Hemangioma||May be ass’d with high-output cardiac failure if very large.
Consider underlying involvement of organs when large.
|Steroids or laser therapy if it involves underlying organs|
|Unilateral red formations on head and neck (unilateral and permanent)||Port Wine Stain||May be ass’d with Sturge-Weber syndrome||Pulsed laser therapy.
If Sturge-Weber must evaluate for glaucoma and give anti-convulsives
|Bluish/gray macules on lower back and/or posterior thigh (most commonly)||Mongolian Spots||Rule out child abuse, usually fade within first few years of life|
|Firm, yellow-white papules/pustules with erythematous base, peaks on 2nd day of life||Erythema Toxicum||None||None, is self-limited|
|Tags or pits in front of the ear||Preauricular Tags||Associated with hearing loss and GU abnormalities||US of kidneys and hearing test|
|Defect in the iris||Coloboma of the Iris||Associated with other CHARGE defects||Screen for CHARGE syndrome|
|An absence of the iris||Aniridia||Associated with Wilm’s tumor||Must screen for Wilm’s tumor every 3 months until 8yr of age|
|A mass lateral to the midline||Branchial Cleft Cyst||Is a remnant of embryonic development associated with infections||Surgical removal|
|A midline mass that rises when swallowing||Thyroglossal Duct Cyst||May have ectopic thyroid, associated with infections||Surgical removal|
|A protrusion of GI contents through umbilicas contained within a sac||Omphalocele||Associated with chromosomal d/o’s and other malformations||Screen for trisomies.|
|An abdominal defect that is lateral to the midline with no sac covering contents||Gastroschisis||Associated with intestinal atresia|
|Rectus abd weakness that allows bulging of fetal and infant umbilical cord||Hernia (umbilical)||Congenital hypothyroidism||This may close spontaneously.
Screen for hypothyroid with TSH screen.
|Scrotal swelling that can be transilluminated||Hydrocele||Associated with an inguinal hernia||Differentiate from inguinal hernia by shining flashlight|
|Absence of teste(s) in scrotum||Cryptorchidism||Associated with cancer of the teste(s)||Surgical removal by 1yr|
|Opening of the urethra on dorsum of the penis||Epispadias||Urinary incontinence||Evaluate for bladder extrophy|
|Opening of the urethra on ventral surface of penis||Hypospadias||No definitive mgmt, but not supposed to circumsize the infant|
|Reducible scrotal swelling||Inguinal Hernia||Surgical correction|