macrosomia, macroglossia, neonatal hypoglycemia, ear creases and pits, hemihypertrophy, and visceromegaly. Patients also can have embryonal tumors (Wilms tumor, hepatoblastoma, neuroblastoma), umbilical hernia or omphalocele, nephrocalcinosis, medullary sponge kidney disease, cardiomegaly, and nephromegaly. Traditionally, the macrosomia, macroglossia, and hypoglycemia are noted in the neonatal period. Hemihyperplasia is noted in segmental regions of the body or specific organs. Developmental and cognitive outcomes are typically normal. midfacial hypoplasia, small, receding mandible, a cleft palate, bifid uvula, hearing loss, and abnormalities of the eye, including high grade myopia, cataracts, increased risk for retinal detachment, hearing loss ...bowel atresia or obstruction, imperforate anus, meconium plug, or Hirschsprung disease.
---Hirschsprung disease is a motility disorder caused by the absence of parasympathetic ganglion cells, because of the failure of neural crest cells to migrate completely during intestinal development.
---Hirschsprung disease is more prevalent in several genetic syndromes, including Down syndrome, Bardet-Biedl syndrome, multiple endocrine neoplasia type 2, Smith-Lemli-Opitz, and Waardenburg syndrome. Type IV Waardenburg syndrome (also known as Waardenburg-Shah syndrome) has signs and symptoms of both Waardenburg syndrome and Hirschsprung disease.
Often there is an autosomal dominant pattern of inheritance, but an autosomal recessive pattern may occur as well.
•Insertion of urinary catheters in patients presenting with traumatic injuries can help to relieve urinary retention, decompress the bladder, and allow for monitoring of urinary output.
•Urinary catheters should not be inserted in patients who have experienced an acute trauma and have any of the following contraindications: gross hematuria, inability to void, unstable pelvic fracture, blood at the urethral meatus, perineal ecchymoses, scrotal hematoma, or a high-riding or nonpalpable prostate on rectal examination.
•A rectal examination should always be performed in patients presenting after abdominal and pelvic trauma before insertion of a bladder catheter.
For patients presenting with any of these contraindications, retrograde urethrography must be performed to confirm an intact urethra before urinary catheter insertion.
A rectal examination should always be performed in patients presenting after abdominal and pelvic trauma before insertion of a bladder catheter. Goals of the rectal examination include assessment of sphincter tone and integrity of the rectal mucosa, determination of prostate position in male patients (high-riding prostate suggests urethral disruption), assessment for gross blood (which may indicate bowel perforation), and identification of pelvic fractures
DEET is active against several species of mosquito, and it has been tested for protection against other insects, including ticks and bed bugs, but its effectiveness against these other arthropods is less clear. Efficacy and duration of action of DEET increases with concentration, and it is most effective when used in concentrations between 10% and 35%. Activity plateaus and even decreases at concentrations above 30% to 50%. It is considered safe for use by infants and by pregnant and lactating women. The American Academy of Pediatrics recommends use of DEET in concentrations less than 30% on the exposed skin of infants and children 2 months of age or older.
•DEET is a highly effective mosquito repellant that is used in concentrations between 10% and 35%; it is considered safe for topical use by infants 2 months of age and older, as well as pregnant and lactating women.
•Icaridin is equally effective against mosquitos compared to DEET; the World Health Organization recommends it as the first line mosquito repellant product, but is not approved for children younger than 2 years of age.
•Despite concerns and case reports, DEET has a good safety profile.
•Some botanicals provide activity against mosquitoes equivalent to low concentration DEET.
•Permethrin applied to clothing, bed nets, and camping gear is effective against ticks, mosquitoes, and other arthropods. It is not recommended for skin use for arthropod protection.
disproportionate small stature, with affected individuals having short arms and legs, macrocephaly, frontal bossing, and midfacial retrusion. Normal intelligence and life span is expected, although hypotonia in infancy can delay motor milestones.
also can have: hydrocephalus, delayed motor milestones, sleep apnea, middle ear dysfunction, hearing loss, kyphosis, bowing of the legs, obesity, and lumbar spinal stenosis.
shoulders are internally rotated, the elbows are extended, the wrists are flexed with ulnar deviation, the fingers are stiff, and the thumbs are positioned in the palms, on the lower extremities, the hips are bilaterally dislocated with knees extended, and the feet have equinovarus contracture
Symmetric congenital rigid contractures
Internal rotation of the shoulder, fixed extension of the elbows, pronation of the forearm, flexion of the wrist
Significant equinovarus deformity of the foot
Marked decrease in muscle mass of limbs
Lack of flexion creases on fingers and hands
Dimples over affected joints
Unaffected, mobile trunk
Nevus flammeus in the mid-face or glabellar region
An alert infant with non-dysmorphic facies
Typically, unless a specific trigger is suspected, chronic urticaria does not warrant allergy testing.
Chronic urticaria is defined by the presence of hives on most days of the week for a period of 6 weeks or longer.
Initial screening tests for disorders most commonly associated with urticaria include: a complete blood count with differential, markers of inflammation (C-reactive protein or erythrocyte sedimentation rate), liver function tests, urine analysis, and a thyroid-stimulating hormone level. Skin or serum-specific IgE allergy testing is typically not indicated unless a specific trigger is suspected on the basis of history.
The history should be geared toward (1) differentiating between vasculitic (duration of lesions >72 hours, pain, discoloration, or residual scarring) and nonvasculitic urticaria (duration <72 hours and absence of above signs), (2) identifying possible underlying cause, and (3) ensuring that the patient does not have evidence of a more serious systemic disease (fever, weight loss, arthralgias, and other constitutional symptoms). It is helpful to approach patients on the basis of broad categories of mechanisms such as IgE-dependent mechanisms (eg, drug, food, insect venom, and latex exposure) and complement-mediated mechanisms (eg, hereditary angioedema and serum sickness).
Other factors to consider include (1) physical urticarias; (2) underlying infection; (3) autoimmune etiology; (4) possible hormonal effects, especially when hives in women occur on a cyclic basis; (5) association with malignant tumor; (6) pertinent occupational exposure; (7) multiple/repetitive or late onset reactions to insect stings/bites; (8) direct contact of skin or oropharynx with foods, chemicals, animal saliva, and other substances; (9) familial pattern/ hereditary syndromes; and (10) psychologic stresses.
A 7-year-old boy has significant daytime and nocturnal enuresis since birth. Physical examination reveals a temperature of 37.8˚C, heart rate of 76 beats/min, respiratory rate of 16 breaths /min, blood pressure of 98/50 mm Hg, and normal growth parameters. He has a tuft of hair above the gluteal cleft. His urinalysis demonstrates a specific gravity of 1.005, pH of 6.0, and no blood, leukocyte esterase, protein, or nitrites.Of the following, the MOST likely cause of enuresis in this patient is... A 16-year-old girl who has hemoglobin SS disease and has undergone cholecystectomy presents with the acute onset of abdominal pain, fever, and vomiting. Physical examination demonstrates an icteric and uncomfortable adolescent who has moderate right upper quadrant and epigastric tenderness to palpation. Laboratory testing demonstrates the following:
•Hemoglobin, 9.2 g/dL (92 g/L)
•White blood cell count, 16,500/µL (16.5 × 109/L)
•Total bilirubin, 18.5 mg/dL (316.4 µmol/L)
•Direct bilirubin, 10.8 mg/dL (184.7 µmol/L)
•Amylase, 650 U/L; reference range, <100 U/L
•Lipase, 900 U/L; reference range, <100 U/L
Abdominal ultrasonography shows a dilated common bile duct without intrahepatic ductal dilatation. The pancreas appears edematous and without cysts or calcifications.
Of the following, the MOST appropriate next step in evaluating this patient is
In a patient presenting with unexplained global developmental delay or intellectual disability, the American Academy of Pediatrics and the American College of Medical Genetics recommend a chromosomal microarray and fragile X testing in all patients, both male and female, in addition to a detailed clinical history, 3-generation family history, dysmorphologic examination, and neurologic examination.
•Trisomy X features include hypertelorism, epicanthal folds, hypotonia, tall stature, clinodactyly, motor and speech delays, and an increased risk of cognitive deficits or learning disabilities in association with attention-deficit disorder/mood disorder.
•47,XYY patients typically resemble those with Klinefelter syndrome (47,XXY) with respect to the tall stature, verbal learning disabilities, delayed speech, and attentional difficulties; however patients with 47,XYY have normal pubertal development and testosterone levels, whereas males with Klinefelter syndrome frequently experience childhood-onset testicular failure.
You are called to the emergency department to evaluate a 5-day-old male newborn who was brought in by ambulance because of a prolonged episode of twitching and perioral cyanosis at home. Over the course of several hours before this episode, he was noted to be fussy, did not feed well, and seemed less active. The parents report he acted well the day before, and they did not note any fever.
His birth weight was 3 kg, and he had an Apgar score 8 at 1 min and 9 at 5 min. The prenatal course and delivery are said to be unremarkable. The mother was negative for group B Streptococcus, human immunodeficiency virus, and rapid plasma reagin. He was discharged home at 2 days of age.
On physical examination, the baby's temperature is 35.9°C, heart rate is 160 beats/min, blood pressure is 52/32 mm Hg, and respiratory rate is 56 breaths/min.
The newborn is floppy with little spontaneous activity. His anterior fontanelle is full, and his skin is noted to be without lesions. A head, ears, eyes, nose, and throat examination shows positive red reflex bilaterally. His neck is supple. His lungs have shallow respirations. His heart has a regular rhythm without murmur, rub, or gallop. His abdomen is distended and soft, and his liver edge is palpable. Findings on genitourinary examination are unremarkable. His extremities are without lesions.
Laboratory test results include the following:
•White blood cell count, 1,800/µL (1.8 ×109/L), with 37% neutrophils, 22% bands, 7% metamyelocytes, 32% lymphocytes, and 2% basophils
•Hemoglobin, 14.2 g/dL (142 g/L)
•Platelets, 122 × 103/µL (122 × 109/L)
Analysis of his cerebrospinal fluid shows the following:
•White blood cell count, 1,932/µL (1.9 × 109/L), with 78% neutrophils and 22% lymphocytes
•Glucose, 10 mg/dL (0.6 mmol/L)
•Protein, 0.25 g/dL (2.5 g/L)
A Gram stain shows white blood cells and few gram-negative rods.
Results are shown from a computed tomography scan of the head (Item Q43).
Of the following, the MOST likely infectious agent causing this baby's illness is
A. Citrobacter koseri
B. group B Streptococcus
C. herpes simplex virus
D. Listeria monocytogenes
E. Pseudomonas aeruginosa
•Infants with trisomy 13 typically have polydactyly, cleft lip or palate, holoprosencephaly, scalp defects, and congenital heart defects.
•Infants with trisomy 18 typically have clenched hands with overlapping fingers, increased muscle tone, micrognathia, low-set abnormal ears, congenital heart defects, small size for gestational age, single umbilical artery, short palpebral fissures, nail hypoplasia, and short sternum.
•Most infants with trisomy 13 and 18 have high infant mortality rates because of their multiple congenital anomalies.