Congenital Variants and Defects Flashcards
1
Q
Crepitus of bones in a neonate suggests. . .
A
. . . 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.
2
Q
Imperforate anus in the newborn is often the presenting sign of. . .
A
. . . VACTERL syndrome
3
Q
Babies that are SGA and LGA should both be monitored closely for. . .
A
. . . hypoglycemia
4
Q
Early vs Late onset IUGR
A
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.
5
Q
Exam findings consistent with prematurity
A
- 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
6
Q
Russel-Silver fetuses are ___, while Beckwith-Wiedemann fetueses are ___.
A
Russel-Silver fetuses are IUGR/SGA, while Beckwith-Wiedemann fetueses are LGA.
7
Q
Exam findings consistent with postdates
A
- Cracked, leathery, wrinkled skin
- Peeling skin
- Absence of lanugo and vernix
8
Q
Infantile seborrhea
A
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.
9
Q
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?
A
Compare the brachial and femoral pulses
Femoral pulses will be deminished relative to brachial in the case of coarctation.
10
Q
In the newborn respiratory exam, ___ are common and unconcerning, but ___ and ___ are likely pathologic
A
In the newborn respiratory exam, rhonchi are common and unconcerning, but wheezing and true rales are likely pathologic
11
Q
Baby w/ scaphoid abdomen should be concerning for. . .
A
. . . diaphragmatic hernia
12
Q
Persistence of the dry umbilical cord remnant to 8 weeks is an important early sign of. . .
A
. . . a neutrophil disorder
13
Q
Cryptoorchidism
A
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.
14
Q
Preauricular pits are associated with. . .
A
. . . brachial arch anomalies, renal anomalies, and hearing loss
15
Q
Choanal atresia
A
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.
16
Q
Metatarsus adductus
A
17
Q
Both Erb’s and Klumpke’s palsies usually. . .
A
. . . 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.
18
Q
The most common cause of polyhydramnios is. . . .
A
. . . 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.
19
Q
Fetal abnormalities associated with cocaine use
A
- Intracranial hemorrhage
- Seizures
- Limb-reduction deficits
- Intestinal atresia
- Gastroschesis
- Urinary tract abnormalities
20
Q
Fetal abnormalities associated with opiate use
A
- Impaired fetal growth
- Neonatal apnea or hypoventilation
- Hyperirritability
- GI dysfuction
- Vague autonomic symptoms (yawning, fever, sneezing, mottling)
- Increased muscle tone
- Behavioral abnormalities
- Developmental delay
21
Q
Fetal abnormalities associated with tobacco use
A
- IUGR/low birth weight
- Preterm labor
- Fine tremors
- Hypertonia
- Increased risk of SIDS and asthma
22
Q
Fetal abnormalities associated with carbazazepine
A
Anomalies in neural tube, heart, urinary tract
Cleft palate
23
Q
Fetal abnormalities associated with lithium
A
Ebstein anomaly (atrialized R ventricle)
24
Q
Fetal abnormalities associated with phenytoin
A
Fetal hydantoin syndrome (broad nasal bridge, cleft lip/palate, microcephaly, developmental delay)
25
Fetal abnormalities associated with retinoic acid
* Severe otic anomalies
* Thymic aplasia
* Anomalies of heart and/or aorta
* CNS defects
26
Fetal abnormalities associated with valproic acid
Spina bifida and other NTDs
Abnormal facies
27
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
28
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.**
29
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.**
30
Cleft palate is usually repaired. . .
. . . **at 9-12 months**
31
Complications of cleft palate
* Poor weight gain (difficulty feeding)
* Speech difficulties
* Dental disturbances
* Recurrent otitis media
32
Biggest risk factor for tracheoesophageal fistula
Esophageal atresia (lack of connection between upper and lower esophagus)
33
Symptoms of tracheoesophageal fistula
* **Excessive oral secretions**
* **Inability to feed**
* **Gagging**
* **Respiratory distress**
* **Recurrent pneumonia**
* Often accompanied by the rest of VACTERL syndrome
34
Duodenal atresia
* Results from failure of canalization in week 8-10 of gestation
* Often **polyhydramnios** will be present in utero. **Bilious emesis** will be produced when the infant attempts to feed.
* Increased incidence in **trisomy 21**
* Diagnosis: CXR shows double bubble sign
35
Diagnosis and Treatment of diaphragmatic hernia
* On exam, finding of bowel sounds in thorax is characteristic -- usually in the **back** and on the **left.**
* Definitive diagnosis is with **X-ray**
* Definitive therapy is obviously **surgical**, however we **also give corticosteroids** to help develop the lung.
* Conventional ventilation often not sufficient as respiratory support due to the low lung volume and lung hypoplasia. **High frequency ventilation** or **ECMO** may be necessary.
36
10% of infants born with omphalocele have \_\_\_
10% of infants born with omphalocele have **Beckwith-Wiedemann syndrome**
37
Features of Beckwith-Wiedemann
* Exophthalmos
* Macroglossia
* Gigantism
* Hyperinsulinemia
* Hypoglycemia
38
Biliary atresia
* In infants, **absence of the common bile duct**
* Persistent cholestasis results in liver fibrosis, portal HTN, and liver failure. Usually starts at **about 2 weeks**.
* **Conjugated hyperbilirubinemia** is the first finding
* Early signs: **Pale stools, dark urine, hepatosplenomegaly, elevated transaminases**
* Diagose w/ **ultrasound** (shows no ducts), confirm with **HIDA scan 7 days after phenobarbital challenge** (phenobarbital stimulates biliary tree to secrete bile, in atesia the contrast never makes it to duodenum)
* Treat w/ **hepatoportoenterostomy** - creation of a connection between the liver and small intestine, as in a Whipple procedure.
39
Infant blood screening prior to discharge
* Screens for:
* PKU
* Sickle cell anemia
* CAH
* Congenital hypothyroidism
40
Gastroschesis vs Omphalocele vs Extrophy of the bladder
* **Gastroschesis:** **R-sided, _no_ containing membrane/sack**. Clinically diagnosed, treated w/ **silo** and gradual reduction of bowel into abdomen.
* **Omphalocele:****Midline, containing membrane/sack**with**bowel inside**. Clinically diagnosed, treated w/**silo** and gradual reduction of bowel into abdomen.
* **Extrophy of the bladder:****Midline, containing membrane/sack,****wet**with urine,**shiny and red**,**no bowel present**. Treat w/ surgical repair,**no silo** necessary.
41
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)
42
Newborn signs and symptoms of Down's
* **5th finger clinodactyly** (incurving of the pinky towards the index)
* **Brachydactyly** (Shortening of the hand and foot tubular bones)
* Upslanting palpebral fissure
* **Brushfield spots** (gray spots in periphery of iris)
* Small, cupped ears
* Excess nuchal skin (common w/ Turner's syndrome)
* **Single transverse palmar crease** (also in Edward's)
43
Once you identify newborn Down's, what do you need to do for the Down's patient?
* **Echocardiogram** and **cardiology consult**
* 60% of DS patients have congenital heart disease, usually **endocardial cushion defect**
* Close monitoring of **signs of duodenal atresia**
* Often history of **polyhydramnios**
* Presents as **projectile bilious emesis** following feeds
* CXR shows **double bubble sign**
* Evaluate parents for chromosomal anomalies
44
Newborn conditions associated with Down's syndrome
* **Cardiac defects**
* **Duodenal atresia**
* Hearing loss
* Strabismus
* Cataracts
* Congenital hypothyroidism
45
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.
46
Newborn signs and symptoms of Edward's
* **Inguinal hernias**
* Cleft lip and/or palate
* **Micrognathia** (small or retracted jaw)
* **Single palmar crease** (also in Down's)
* Microcephaly
* Overlapping digits
* **Cardiac defects / patent ductus / coarctation of the aorta**
47
Newborn signs and symptoms of Patau's
* **Cutis aplasia** (missing portion of skin and hair)
* **Sloping forehead**
* **Polydactyly**
* **Omphalocele**
* Cleft lip and/or palate
* **Cardiac defects**
48
Patau patients are hypersensitive to \_\_\_\_
Patau patients are hypersensitive to **anticholinergics**
Like **atropine** and **pilocarpine**
49
The diagnoses of ___ should be considered for all male-bodied children who have been identified as having developmental delay, psychosocial, school, or adjustment problems.
The diagnoses of **Kleinfelter syndrome AND fragile X syndrome** should be considered for all male-bodied children who have been identified as having developmental delay, psychosocial, school, or adjustment problems.
It both are quite **common underlying etiologies of developmental delay.**
**Kleinfelter** often goes unrecognized until **failure of puberty.**
50
As adults, males with Klinefelter syndrome develop. . .
They are at increased risk for \_\_\_
. . . **gynecomastia, sparse facial hair, azoospermia**
That are at **increased risk for breast cancer**
51
XYY syndrome
* Affected individuals are phenotypic males
* Display **explosive tempers**, signs of high testosterone (ex, **acne**), **long and asymmetric ears, tall stature,** **large teeth,** and **mild pectus excavatum**
* Behavioral features first become apparent around 5-6 years, due to early and excessive testosterone production
52
Classical presentation of VSD
* No signs at birth!!! This is an **acyanotic** heart disease
* Symptoms rather begin to appear **weeks to months after birth**, when **fall in PVR causes blood to flow from L to R** (**_Eisenmenger syndrome_**)
* Will present as a **new holosystolic murmur** and **pulmonary symptoms** (with wheezing or rales on exam) weeks to months after birth
53
Eisenmenger syndrome may occur in. . .
* VSD (within months of birth)
* ASD (later in life, often young adulthood)
* Patent ductus arteriosus
* The three forms of acyanotic congenital heart disease
54
Acyanotic heart disease typically causes symptoms via. . .
. . . **volume overload of the lungs** and **pulmonary HTN**
Usually via L -\> R shunt
55
A baby that is normally pink and becomes dusky while crying likely has \_\_\_\_.
A baby that is normally dusky and becomes pink while crying likely has \_\_\_\_.
A baby that is normally pink and becomes dusky while crying likely has **ventricular septal defect**.
A baby that is normally dusky and becomes pink while crying likely has **choanal atresia**.
56
Treatment of a VSD
* **Asymptomatic, small VSD**: No therapy. Many will actually close spontaneously by 6-12 months of life. If not, surgery.
* **Large, symptomatic VSD:** diuretics (**hydrochlorothiazide**, **furosemide**), afterload reducton agents (**ACE inhibitors**). Many will still close by 1 year of age, but it it is severe it needs **surgery** now.
* **If they persist by 1 year, then surgical therapy** for closure is indicated.
57
In the context of \_\_\_, a PDA is a good thing. We may even induce a PDA by giving PGE1.
In the context of **congenital pulmonary stenosis**, a PDA is a good thing. We may even induce a PDA by giving PGE1.
58
Classic presentation of an ASD
* Mild growth failure, exercise intolerance
* On exam: second heart sound **fixed splitting. Systolic flow murmur** from the pulmonic valve.
* Well tolerated and **may go unnoticed in childhood,** but can cause **pulmonary hypertension in adulthood.**
59
Most common heart defect among children with Down's
**AV canal defect**
Often **mimics ASD cardiac exam**, but **ASD is rarely symptomatic** in infancy or childhood. Meanwhile, **AV canal defect can cause significant impairment starting at birth.**
60
Treatment of patent ductus
Indomethacin
61
If you catch coarctation of the aorta as it is developing in a neonate, you can treat with. . .
. . . **prostaglandin E1**
This process is part of ductus closure. So, you can antagonize it the same way you antagonize ductus closure -- by supplementing prostaglandins.
Surgery or catheterization will be necessary for permanent repair.
62
Cyanotic heart disease manifests as ___ and is physiologically characterized by \_\_\_.
Cyanotic heart disease manifests as **cyanosis developing over the first 1-2 days of life as the ductus arteriosus closes** and is physiologically characterized by **decreased pulmonary bloodflow**.
63
Characteristic CXR findings in tetralogy of Fallot, transposition of the great arteries, and total anomalous pulmonary venous return
* Tetralogy: "Boot-shaped" heart
* Transposition: "Egg-on-a-string" heart
* TAPVR: "Snowman" heart
64
Benign familial hematuria
Autosomal dominant
Persistent or intermittent hematuria without progression to renal failure. Can be seen even in childhood, unlike ADPKD which only causes hematuria beginning in middle age.
Biopsy generally reveals a thin basement membrane.
65
Types of hermaphrodism
* **"Male" pseudohermaphrodism:** 46,XY karyotype. Etiologies include testosterone dyssynthesis, 5a-reductase deficiency, androgen insensitivity syndrome
* **"Female" pseudohermaphrodism:** 46,XX karyotype. Usually CAH. Other etiologies include DES exposure, vaginal or uterine anatomic anomalies.
* **True hermaphrodism:** 70% 46,XX, remainder 46,XY or mosaic. Bilateral ovotestes OR one ovary and one testis on opposite sides.
* **Mixed gonadal dysgenesis:** Mostly 46,XY/45,XO mosaics. Sertoli and Leydig cells, but no germinal elements on one side, streak gonads (of Turner's) on other. 25% of streak gonads develop malignancy, and so mube be removed.
66
Features suggestive of CAH
* Neonatal salt wasting
* Ambiguous genitalia
* Hyperpigmentation of labioscrotal folds
67
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.**
68
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.**
69
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.
70
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
71
Infantile glaucoma
* Triad of **tearing, photophobia, and blepharospasm**
* May be isolated or occur with various conditions (**congenital rubella, NF type I, Sturge-Weber syndrome, Marfan syndrome, aneuploidies**, etc)
* Increased intraocular pressure may lead to expansion of the globe and subsequent corneal damage
72
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
73
Brachio-oto-renal syndrome
* **Hearing impairment**
* **Preauricular pits**
* **Brachial fistulas**
* **Renal impairment**
* **External ear abnormalities**
74
Alport syndrome
* **Collagen IV** disorder. Weakens the glomerular GBM and other certain structures in the body
* Characterized by:
* **Nephritis w/ hematuria**
* **Progressive renal failure**
* **Sensorineural hearing loss**
* **Ocular abnormalities**
75
Most common infectious cause of congenital sensorineural hearing loss
CMV
76
Diseases that predispose to easy bone injury
* Osteogenesis imperfecta
* Menkes kinky hair disease
* Scurvy
* Cortical hyperostosis
77
Infants born with Apgar scores of 4 or less at 1 minute and 6 or less at 5 minutes require \_\_\_\_
Infants born with Apgar scores of 4 or less at 1 minute and 6 or less at 5 minutes require **audiologic evaluation**
They are at risk of hearing loss
78
Osteogenesis imperfecta
* History of repeated bone fractures with minimal trauma
* Blue sclerae
* **Hearing loss**
* **Short stature**
79
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
80
Fragile X syndrome
Male child
Intellectual disability
Hypermobile joints
Mitral valve prolapse
CGG repeats on X chromosome
81
Angelman syndrome
* Maternal deletion on chrom. 15
* Intellectual disability, delayed motor skills
* Epilepsy, ataxia, microcephaly, hypertonia
* Happy demeanor, frequent unprovoked laughter, easily excitable
82
Treatment of Prader-Willi
* Calorie restriction
* GH and sex hormone supplementation
83
Rett syndrome
Rett syndrome is an **X-linked dominant** congenital disorder that **almost exclusively affects girls** (males die in utero) and manifests with a **progressive loss of cognitive functions, intelligence, and acquired abilities** (e.g., language skills) in children who were previously developing normally.
Regression begins at ~6-18 months. Definitive diagnosis is genetic (MECP2 gene).
