Congenital Variants and Defects Flashcards
Crepitus of bones in a neonate suggests. . .
. . . fracture, probably during delivery.
Clavicles are the most commonly affected. Multiple fractures at delivery may be the initial presentaiton of osteogenesis imperfecta.
Radiographs are generally not indicated unless there is associated gross deformity or asymmetric arm movements or tone. Complete fractures should be immobilized. No other treatment is usually necessary.
Imperforate anus in the newborn is often the presenting sign of. . .
. . . VACTERL syndrome
Babies that are SGA and LGA should both be monitored closely for. . .
. . . hypoglycemia
Early vs Late onset IUGR
Early onset IUGR: Growth restriction begins prior to 28 weeks GA. Symmetric (head and body). Often due to chromosomal anomalies, heritable syndromes (Russel-Silver, etc), or early-gestation TORCH infection.
Late onset IUGR: Growth restriction begins after 28 weeks GA. Asymmetric (head circumference normal, body small). Oftem due to uteroplacental insufficiency or late-gestation TORCH infection.
Exam findings consistent with prematurity
- Paucity of plantar creases
- Absence of or smaller-than-expected breast nodules
- Fine, fuzzy scalp hair
- Visible veins in skin
- Absence of ear cartilage
- Undescdended testes
Russel-Silver fetuses are ___, while Beckwith-Wiedemann fetueses are ___.
Russel-Silver fetuses are IUGR/SGA, while Beckwith-Wiedemann fetueses are LGA.
Exam findings consistent with postdates
- Cracked, leathery, wrinkled skin
- Peeling skin
- Absence of lanugo and vernix
Infantile seborrhea
Eczema-like patches that appear between weeks 2 and 10 in newborns. Often appear on the scalp, face, and areas of high sebaceous gland density.
If severe, baby oil is applied to scalp for 15 minutes followed by washing with an anti-dandruff shampoo. Occasionally, 0.5-1% hydrocortisone cream may be necessary.
May be complicated by candidal superinfection. In this case, nystatin cream is indicated.
You hear a continuous murmur in a neonate and want to assess whether it is a closing ductus or coarctation of the aorta. What do you do?
Compare the brachial and femoral pulses
Femoral pulses will be deminished relative to brachial in the case of coarctation.
In the newborn respiratory exam, ___ are common and unconcerning, but ___ and ___ are likely pathologic
In the newborn respiratory exam, rhonchi are common and unconcerning, but wheezing and true rales are likely pathologic
Baby w/ scaphoid abdomen should be concerning for. . .
. . . diaphragmatic hernia
Persistence of the dry umbilical cord remnant to 8 weeks is an important early sign of. . .
. . . a neutrophil disorder
Cryptoorchidism
When the testis cannot be found on neonatal exam or is fixed within the abdomen or pelvis.
It is associated with an increased risk of sterility and testicular cancer.
If the testis persists outside of the scrotal sac by age 1 year, it is surgically relocated there, but this does not mitigate the above risks.
Preauricular pits are associated with. . .
. . . brachial arch anomalies, renal anomalies, and hearing loss
Choanal atresia
Congenital blockage of the posterior nasal airway
Since babies are obligate nose breathers, this obstruction may lead to cyanosis and apnea when the mouth is closed or occluded, such as during feeding.
Infants who are cyanotic when calm or feeding but have improved color with crying should have a small catheter passed through each side of the nose. Failure of this passage strongly suggests choanal atresia. Short-term oral strategies for oxygenation may then be utilized to bridge the gap to nasal surgery.
Metatarsus adductus
Both Erb’s and Klumpke’s palsies usually. . .
. . . resolve spontaneously after 48 hours.
If they do not, improvement can be expected up to 6 months of age. Thereafter, physical therapy is recommended if nothing has changed. If refractory, surgery may be indicated.
The most common cause of polyhydramnios is. . . .
. . . impaired fetal swallowing
This may be due to: Congenital GI obstruction or malformation, conditions that interfere w/ neural function, trisomies, Beckwith-Wiedemann, and achondroplasia.
Otherwise, maternal DM or hydrops fetalis must be considreded.
Fetal abnormalities associated with cocaine use
- Intracranial hemorrhage
- Seizures
- Limb-reduction deficits
- Intestinal atresia
- Gastroschesis
- Urinary tract abnormalities
Fetal abnormalities associated with opiate use
- Impaired fetal growth
- Neonatal apnea or hypoventilation
- Hyperirritability
- GI dysfuction
- Vague autonomic symptoms (yawning, fever, sneezing, mottling)
- Increased muscle tone
- Behavioral abnormalities
- Developmental delay
Fetal abnormalities associated with tobacco use
- IUGR/low birth weight
- Preterm labor
- Fine tremors
- Hypertonia
- Increased risk of SIDS and asthma
Fetal abnormalities associated with carbazazepine
Anomalies in neural tube, heart, urinary tract
Cleft palate
Fetal abnormalities associated with lithium
Ebstein anomaly (atrialized R ventricle)
Fetal abnormalities associated with phenytoin
Fetal hydantoin syndrome (broad nasal bridge, cleft lip/palate, microcephaly, developmental delay)
Fetal abnormalities associated with retinoic acid
- Severe otic anomalies
- Thymic aplasia
- Anomalies of heart and/or aorta
- CNS defects
Fetal abnormalities associated with valproic acid
Spina bifida and other NTDs
Abnormal facies
Retinopathy of prematurity
- Caused by neoangeogenesis. Worsened by increased FiO2 requirements.
- Leads to blindness or retinal detatchment. Predisposes to early glaucoma.
- Screen every premature infant w/ eye exam
- Treat w/ laser ablation of vessels
Intraventricular hemorrhage
- Caused by highly vascularized ventricles when there is significant change in blood pressure
- Every premature infant prior to 30 weeks is screened with cranial doppler twice
- Signs and symptoms: Bulging fontanelles, seizures, comatose state in premature newborn. Increased intracranial pressure.
- Diagnosis: Cranial doppler ultrasound.
- Treatment: Surgerical placement of VP shunt to decrease ICP.
Necrotizing enterocolitis
- Pathology: Dead gut
- Occurs in premature neonates
- Presents w/ bloody bowel movement
- Diagnosis: Abdominal X-ray showing pneumatosis intestinalis (air in the wall of the gut) is pathognomonic.
- Treatment: Bowel rest with TPN for nutrition, antibiotics against gram negatives (since they may escape from the gut). Surgery may be necessary if the extent of gut necrosis is excessive. This will produce iatrogenic short gut syndrome.
Cleft palate is usually repaired. . .
. . . at 9-12 months
Complications of cleft palate
- Poor weight gain (difficulty feeding)
- Speech difficulties
- Dental disturbances
- Recurrent otitis media
Biggest risk factor for tracheoesophageal fistula
Esophageal atresia (lack of connection between upper and lower esophagus)
Symptoms of tracheoesophageal fistula
- Excessive oral secretions
- Inability to feed
- Gagging
- Respiratory distress
- Recurrent pneumonia
- Often accompanied by the rest of VACTERL syndrome
Spina bifida occulta vs meningocele vs myelomeningocele
- All (but especially those with myelomeningocele) are potentially at risk for:
- Arnold Chiari Malformation type II (caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal)
- Hydrocephalus
- Focal neurologic deficits below the level of the NTD (motor, bowel, bladder dysfxn)
Atrioventricular canal defect
The ultimate endocardial cushion defect.
Presents with cyanosis, fixed split S2, diastolic and holosystolic murmurs.
Form of congenital heart disease associated with Down’s.
Prader Willi syndrome
- In infancy, this condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. Males will also have micropenis and cryptoorchidism.
- In childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating (hyperphagia) and obesity. They also develop unusual behaviors and display continued developmental delay.
- Prader-Willi occurs when dad has a chromosomal deletion on 15q11-13. Angelman syndrome occurs when mom has a chromosomal deletion on 15q11-13. This phenomenon is due to imprinting.
Tracheo-esophageal fistula
- Fairly common anatomic abnormality, usually associated with VACTERL syndrome
- Most cases of esophageal atresia (>90%) include a tracheal anastamosis
- Signs and symptoms: excessive oral secretions, choking, cooughing, and cyanosis immediately following delivery. Pregnancy usually involves polyhydramnios.
- Classically, an attempt is made to place a nasogastric tube, but an obstruction is met in the esophagus (ie, there is esophageal atresia)
- Diagnosis: chest and abdomen radiograph with NG tube in place, demonstrating a coiled tube in the esophageal pouch
- Treatment: constant suctioning while awaiting surgery to ligate the fistula and anastamose the esophageal tract and pouch.
- Note: H-type fistula may also occur. In this anatomy, a trache-esophageal fistula is present without esophageal atresia. These cases do not present at birth, but rather in the first months of life with recurrent aspiration pneumonia and feeding difficulty.
Posterior urethral valves
- Most common cause of severe urinary tract obstruction in boys. Occurs exclusively in males.
- Symptoms may be congenital or occur later in childhood
- Characterized by: bilateral hydronephrosis with bladder distension, palpable kidneys on exam, dribbling urine stream or anuria, high risk for UTIs, post-renal AKI
- Prenatal course usually involves oligohydramnios and often pulmonary hypoplasia is resultant
- Post-renal injury may be very severe, to the point of requiring renal transplant
- Diagnosis may be made prenatally with fetal ultrasound. Postnatally, renal ultrasound and voiding cystourethrogram make the diagnosis.
- Treatment: Acutely, catheterization or vesicotomy to relieve obstruction. Definitive therapy is then surgical. Post-operatively, persistent vesicoureteral reflux and postobstructive hydronephrosis are common. Prophylactic antibiotics may help in reducing UTI frequency.
Dacryostenosis
- Congenital nasolacrimal duct obstruction
- Due to failure of canalization of the nasolacrimal duct
- Presents as unilateral or bilateral increased tearing without inflamed conjunctiva or corneal changes. Tearing becomes mucoid, and mucoid contents may become mucopurulent if infected.
- Therapy consists of nasolacrima duct massage twice daily and warm water eyelid washes. If there is mucopurulence, ophthalmologic antibiotics are indicated. If there is dacryocystitis, oral antibiotics are indicated.
- 90-96% resolve spontaneously by 1 year of age. If refractory, refer to ophthalmology
Waardenburg syndrome
- Partial albinism
- Progressive sensorineural hearing loss
- Lateral displacement of the inner canthi
- Heterochromic irises
- Medial eyebrow flare
- Broad nasal bridge and mandible
- Interitance is autosomal dominant
- Indication for hearing evaluation as a child
Brachio-oto-renal syndrome
- Hearing impairment
- Preauricular pits
- Brachial fistulas
- Renal impairment
- External ear abnormalities
Cri-du-chat syndrome
- Microdeletion of short arm on chromosome 5
- Looks a lot like Edward’s syndrome:
- Mandibular hypoplasia, single palmar crease, developmental delay
- Also w/ round face, widely-spaced eyes
- High-pitched, squeaky, cat-like cry, from which it gets its name
