Common Congenital Anomalies

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

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

3. Head • Enlarged fontanelle • Hair- swirls/white forelock • Eyes- congenital cataracts, extra folds, hyper/hypotelorism, upslant/downslant • Choanalatresia • 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 28-40 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