1. Common Congenital Anomalies
Carolyn O’Donnell, MD, PGY-3

2. Newborn Exam Fontanelle Lungs Eyes/lacrimal ducts Abdomen Nares
Femoral pulses
Lips/palate/tongue/ frenula
GU- testes/female genitalia
Ears- pits/tags
Hips
Clavicles/neck
Extremities
Brachial pulses
Back/spine
Chest
Skin
Heart

3. Head Enlarged fontanelle Hair- swirls/white forelock
Eyes- congenital cataracts, extra folds, hyper/hypotelorism, upslant/downslant
Choanal atresia
Ear pits/tags, position/rotation
Cleft palate/lip
Prominent frenula/tongue tie

4. Red Reflex Rule out opacities between the cornea and the retina
Congenital glaucoma: can see large eyes, excess tearing and cloudy corneas. This condition can be clinding
An infant with consistently white pupils might have a retinoblastoma tumor

5. Red Reflex

6. Tongue Tie (Ankylogossia)

7. Neck and Chest Cystic hygroma Thyroglossal duct cyst
Branchial cleft cyst
Pectus excavatum
Extra mamillary tissue (3rd nipple)
Heart murmur- congenital heart disease

8. Thyroglossal Duct Cyst

9. Pectus Excavatum

10. What syndrome is this?

11. Extranumerary nipple

12. Abdomen and GU Omphalocele/gastroschesis/umbilical hernia
Scaphoid abdomen- ?congenital diaphragmatic hernia
Femoral pulses- aortic coarctation
Undescended testes
Virilized female
Fistulas, hypospadia/epispadias, imperforate anus, Hirschprung’s
Posterior urethral valves (no urinating)

13. Imperforate Anus

14. Hypospadias

15. Virilized female

16. Extremities and Skin Congenital Hip dysplasia Extra digits
Single palmar crease
Clubbed foot
Congenital nevi
Hemangiomas

17. Club Foot

18. hemangioma

19. Cleft lip/palate Incidence: about 1 in 600 live births
Cleft lip with or without cleft palate
Syndromic: associated with another syndrome. Syndromic cleft lip/palate is more common in males
Nonsyndromic: isolated finding, not associated with any particular syndrome. Non syndromic tends to be equal between males and females.
Consider submucous cleft palate with bifid uvula

20. Causes
Multifactorial: combination of hereditary and environmental factors involved in growth and development
Interference with normal development- within the 1st few months of development
Medications such as phenytoin, steroids, retinoids (Vitamin A derivatives)
Alcohol, hypoxia and dietary deficiencies have been implicated
Both single and multiple genes

21. Cleft lip/palate

22. Syndromes DeGeorge/velocardiofacial/22q deletion
Pierre Robin malformation sequence
Apert syndrome
Crouzon syndrome
Treacher-Collins

23. Complications Feeding problems
Eustacian tube dysfunction secondary to abnormal muscle placement -> serous otitis/middle ear disease/chronic ear infections -> hearing problems
Speech problems
Dental problems
Team approach needed: medical/surgical, dental, speech and hearing

24. Treatment
Surgical repair- usually by plastic surgery- can affect maxillofacial growth pattern
Timing of surgery controversial- often in 2 stages. One commonly used plan involves early soft palate repair at age 6 months, followed by hard palate repair at age 6 years. Others involve complete repair at a later age.
Involvement with ENT, speech therapy, following hearing tests, dental/orthodontic specialists, social supports.

25. Undescended Testicle (cryptorchidism)
Occurs in 3-4% of full term newborns
More common in premature infants- transinguinal migration occurs at weeks gestation (under hormonal control)
Often the testicle will descend by the time the infant is 9 months old- prevalence is 1% at 1 year of age
If there’s no descent by 1 year of age, this warrants further workup
One can ask the family to check at home in a warm bath due to retractile testis (due to cremasteric reflex)

26. Causes Increased incidence in prematurity Increased risk with:
Small for gestational age
Low birth weight
Maternal exposure to estrogen early in pregnancy
Twin
Sibling with cryptorchidism
Conditions associated with low intra-abdominal pressure

27. Cryptorchidism

28. Cryptorchidism Complications-
Infertility (increased risk with time in abdomen)
Increased risk for testicular cancer- approximately 40x normal
If neither testicle palpable, endocrine and genetic testing warranted to determine true sex
Ultrasound may be helpful to identify the location of the testicle- sometimes not present at all
If partially descended, exam should be followed closely to make sure fully descends

29. Treatments
Often surgical (orchiopexy) though some medical treatments have been tried including testosterone and HCG
Surgery performed by general surgeon or urologist- usually between 6 and 12 months of age
Surgical correction many decrease the risk of cancer though it is still significantly elevated.
Another benefit of surgery is more easily identifiable if tumor/mass. Also decreased infertility.

30. Ear pits and tags
There is an association between ear anomalies and hearing loss. Audiologic evaluation is recommended for any ear anomaly
Multiple ear anomalies may suggest a kidney problem as well as there is an association and many syndromes contain anomalies in both systems.
Renal Ultrasound is not recommended if isolated pit or tag

31. Preauricular Ear Pit

32. Ear Tag

33. Preauricular Ear Tag