Abnormalities of the newborn – A comprehensive list for the Step 2 CK exam

by / Wednesday, 02 June 2010 / Published in Pediatrics

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.

Image Description Diagnosis Co-morbidities Management
  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

2 Responses to “Abnormalities of the newborn – A comprehensive list for the Step 2 CK exam”

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