Transcript Congenital abn
Common Congenital Anomalies
Carolyn O’Donnell, MD, PGY-3
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
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
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
Red Reflex
Tongue Tie (Ankylogossia)
Neck and Chest
• • • • • • Cystic hygroma Thyroglossal duct cyst Branchial cleft cyst Pectus excavatum Extra mamillary tissue (3 rd nipple) Heart murmur- congenital heart disease
Thyroglossal Duct Cyst
Pectus Excavatum
What syndrome is this?
Extranumerary nipple
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)
Imperforate Anus
Hypospadias
Virilized female
Extremities and Skin
• • • • • • Congenital Hip dysplasia Extra digits Single palmar crease Clubbed foot Congenital nevi Hemangiomas
Club Foot
hemangioma
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
Causes
• • • • • Multifactorial: combination of hereditary and environmental factors involved in growth and development Interference with normal development- within the 1 st 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
Cleft lip/palate
Syndromes
• • • • • DeGeorge/velocardiofacial/22q deletion Pierre Robin malformation sequence Apert syndrome Crouzon syndrome Treacher-Collins
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
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.
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)
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
Cryptorchidism
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
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.
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