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118 Cards in this Set
- Front
- Back
What do Noonan and Turner have in common and what sets them apart? |
They both have short stature, webbed neck, just deformity and cubitus valgus. However, Noonan = right sided heart defects and hypertelorism while Turner = left-sided heart defects like coarctation |
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Describe Marfan syndrome (3) |
Short stature, large head, café au lait spots |
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What is the risk of having another child with down syndrome when it was due to non-disjunction? |
It is equal to the overall risk in the general population (1%) PLUS The mothers age related risk. 40 year old mom = 1:90 while 22 year old risk = 1:1500 |
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Describe homocystinuria (4) |
Tall stature, pectus excavatum, lens dislocation and developmental delay |
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By definition, those with neurofibromatosis one need to have at least two of the following findings? (7) |
1. More than or equal to six café au lait macules greater than 5 mm in pre-puberty and more than 15 mm post pubertal 2. More than equal to two neurofibromas or one plexiform neurofibroma 3. Axillary or inguinal freckling 4. More than equal to 2 Lisch nodules 5. Optic glioma 6. Distinctive artist lesion such as sphenoid dysplasia or bowing of long bone cortex 7. 1st degree relative with NF1 |
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Which tests differentiate between fatty acid oxidation defect and glycogen storage disease? |
Urine ketones would be high if glycogen storage disease and none or a few ketones if fatty acid oxidation defect |
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Describe Klippel-Feil Syndrome |
Short neck, low occipital hairline, cardiac renal and pulmonary anomalies with horseshoe kidney or double collecting system and failure of segmentation and fusion of more than two cervical vertebrae and deformity of scapula |
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Describe Pompe disease |
with muscle weakness, hepatomegaly, severe cardiomegaly, and normal mental development. They have normal blood glucose, unlike patients with von Gierke disease. |
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Describe von Gierke disease |
deficit is of glucose-6-phosphatase, which converts glucose-6-phosphate to glucose in the liver. This patient would present at 3–4 months of age (because of the fewer feeds) with severe and rapid hypoglycemia resulting in seizures. There is also hepatomegaly and failure to thrive. It is inherited as autosomal recessive. |
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Describe Wiskott-Aldrich syndrome |
Triad of thrombocytopenia, eczema and recurrent infections with small platelets. X linked recessive disease and have increased risk for pyogenic & opportunistic infections and bleeding |
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These two diseases have thrombocytopenia, but one has large platelets and the other has small. Which are they? |
Big = Bernard Soulier thrombocytopenia Small = Wiskott-Aldrich syndrome |
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Describe Mowat-Wilson Syndrome |
More than 50% have Hirschsprung’s disease, square face, hypertelorism, broad nasal bridge with prominent nasal tip and everted lower lip with posteriorly rotated ears |
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What’s Waardenburg Syndrome? |
mutations in the PAX3 gene, located on chromosome band 2q35. It is characterized by congenital sensorineural hearing loss, pigment abnormalities of the iris (heterochromia), hair hypopigmentation (white forelock involving the forehead and both medial eyebrows), displacement of the medial canthi (dystopia canthorum), facial asymmetry, hypertrichosis of the medial eyebrows, prominent nasal root, and cutaneous depigmentation. |
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What causes elevated alpha-fetoprotein (4)? |
Think RAIN: Renal (polycycstic kidney, renal ageneais), abdominal wall defect, incorrect dating and neural issues (anencephaly and spina bifida |
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What causes low AFP (2)? |
Trisomy 18 and 21 |
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Describe nephrogenic diabetes insipidus |
An X-linked disorder only found in males where kidney doesn’t respond to ADH resulting in dilute urine |
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How are hemophilia A and B inherited? |
X linked recessive |
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How are hemophilia A and B inherited? |
X linked recessive |
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How is G6PD deficiency inherited? |
X linked recessive |
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How are hemophilia A and B inherited? |
X linked recessive |
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How is G6PD deficiency inherited? |
X linked recessive |
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How is chronic granulomatous disease inherited? |
X linked recessive |
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How are hemophilia A and B inherited? |
X linked recessive |
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How is G6PD deficiency inherited? |
X linked recessive |
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How is chronic granulomatous disease inherited? |
X linked recessive |
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How is Duchenne muscular dystrophy inherited? |
X linked recessive |
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How is nephrogenic diabetes insipidus inherited? |
X linked recessive |
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How is retinitis pigmentosa inherited? |
X linked recessive |
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How is retinitis pigmentosa inherited? |
X linked recessive |
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How is androgen insensitivity inherited? |
X linked recessive |
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How is Wiskott Aldrich Syndrome inherited |
X linked recessive. Think guys sitting around drinking whiskey |
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If a mom is an X linked recessive carrier, what percentage of male children will be affected and which percentage of overall children will be affected? |
50% of males affected while 25% of all children. |
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How is Alport syndrome inherited? |
X-linked dominant |
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How is pseudohyperparathyroidism inherited? |
X-linked dominant |
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How is tuberous sclerosis inherited? |
Autosomal dominant |
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How is achondroplasia inherited? |
Autosomal dominant |
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How is retinoblastoma inherited? |
Autosomal dominant |
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How is retinoblastoma inherited? |
Autosomal dominant |
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How is Marfan syndrome inherited? |
Autosomal dominant |
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How is Apert syndrome inherited? |
Autosomal dominant |
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How is Apert syndrome inherited? |
Autosomal dominant |
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How is neurofibromatosis inherited? |
Autosomal dominant |
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How is nail patella syndrome inherited? |
Autosomal dominant |
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How is galactosemia inherited? |
Autosomal recessive |
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How is sickle cell inherited? |
Autosomal recessive |
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How is alpha-1 antitrypsin inherited? |
Autosomal recessive |
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How is Hurler syndrome inherited? |
Autosomal recessive |
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How is ataxia telangiectasia inherited? |
Autosomal recessive |
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How is Tay Sachs disease inherited? |
Autosomal recessive |
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How is Wilson’s disease inherited? |
Autosomal recessive |
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How is Kartagner Syndrome inherited? |
Autosomal recessive |
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How is Kartagner Syndrome inherited? |
Autosomal recessive |
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In an autosomal recessive condition, what percentage of unaffected offspring will be carriers? |
2/3 |
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How is PKU inherited? |
Autosomal recessive |
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What is the karyotype in Noonan Syndrome? |
Normal |
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Lens displacement in Marfan versus homocystinuria? |
Marfan = up and homocystinuria = down |
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Trisomy 21, if a carrier parent has a full translocation, what is the chance of down syndrome recurring? |
100% |
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Trisomy 21, if a carrier parent has a full translocation, what is the chance of down syndrome recurring? |
100% |
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In trisomy 21 due to translocation, what is the risk of recurrence if the parent has a partial translocation |
15% . If this is from the mother, then chances are a little higher than if from father |
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Describe trisomy 18 |
Horseshoe kidney, clenched fist, rocker bottom feet, hypoplastic nails, prominent occiput and low set ears |
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Which gene is involved in both Prader Willi and Angelman Syndrome? Which is mom only and dad only genes? |
15q11-13. Only mom = Prader Willi. Think that Moms are always trying to feed their kids |
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What’s the defect in Beckwith Wiedemann Syndrome? |
Methylation problem on chromosome 11p15.5 |
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Describe Williams Syndrome (7) |
Elfin face, wide-spaced teeth, upturned nose, mild intellectual disability, cocktail party personality, hypercalcemia, supravalvular aortic stenosis |
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Genetics found in Cri-du-chat? |
Deletion in chromosome 5 |
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Genetics found in Cri-du-chat? |
Deletion in chromosome 5 |
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Which 2 diseases have FGFR2 mutations and which chromosome? |
Apert and Crouzon |
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Genetics found in Cri-du-chat? |
Deletion in chromosome 5 |
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Which 2 diseases have FGFR2 mutations and which chromosome? |
Apert and Crouzon on chromosome 10 |
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Chromosomal change in DiGeorge? |
22q11 deletion |
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How is DiGeorge inherited? |
Autosomal dominant |
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Signs of DiGeorge (5) |
Conotruncal defect like tetralogy, abnormal face, thymic aphasia and immunodeficiency, cleft palate, hyPOparathyroidism, Think CATCH22 |
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How is hypophosphatemic rickets inherited? |
X-linked dominant |
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Genetic cause of Alagille syndrome |
Absence or mutation of JAG1 gene |
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Which gene mutation increases Crohn disease risk |
NOD2 gene |
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Gene responsible for hereditary pancreatitis |
PRSS1 gene |
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What does charge stand for? |
Colobolma, heart disease, atresia choanal, retarded growth/development, genital hypoplasia,ear anomaly (hearing loss) |
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What does VACTERL stand for? |
Vertebral defect, anal atresia, cardiac defect (VSD), Tracheoesophageal fistula, renal abnormality and radial hypoplasia, limb abnormality |
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Describe intelligence of those with VACTERL |
Normal |
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Describe intelligence of those with CHARGE syndrome. |
Below normal. Think that somebody needs to be in charge of them. |
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Intelligence level of those with Crouzon |
Normal |
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Intelligence of those with Apert |
Mild intellectual disability |
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Features of Rubinstein-Taybi Syndrome (3) |
Broad based thumb, cryptorchidism and difficulty with anesthesia |
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What’s Pfeiffer Syndrome |
They have short and broad thumbs and great toes like Rubinstein-Taybi, but with craniosynostosis and heads looks like that of Crouzon |
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Features of Russell silver syndrome |
Very short stature and triangular face and may have Limb or facial asymmetry |
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Features of prune belly syndrome |
Undescended testes, oligohydramnios, pulmonary hypoplasia and bladder outlet obstruction |
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What does Treacher Collins look like? |
Think of the kid from the movie wonder. Conductive hearing loss, small jar, you are anomalies and abnormal lower lids with normal intellectual function |
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What is the most common cause of sudden death in children with achondroplasia? |
Cervicomedullary junction compression |
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What is the most common cause of inherited intellectual disability? |
Fragile X. You may have one to say down syndrome, but that is rarely inherited |
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What is the most common genetic because of intellectual disability |
Down syndrome |
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Describe Rett Syndrome |
A girl who develops normally and then has rapid deterioration around 1 to 4 years of age with this elevation of head growth, and wringing and Loss of functional speech |
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Features of Pierre Robin |
Small jaw, cleft palate, normal size tong, but sticks out because of the small jar, syndactyly, language delay and seizures and may have cor pulmonale |
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Describe Stickler Syndrome |
Ophthalmologic (myopia, cataracts, vitreous anomaly, retinal detachment), auditory (sensorineural or conductive hearing loss), and articular (joint hypermobility, early onset osteoarthritis, spondyloepiphyseal dysplasia) abnormalities. May be associated with Pierre Robin sequence |
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How’s the level of B and T lymphocytes in Briton’s X-linked agammaglobulinemia? |
B is low and T is high |
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What is job syndrome? |
Hyper IGE when patient presents with eosinophilia, eczema and elevated IGE resulting in recurrent sinopulmonary infections. Also have multiple fractures and skeletal abnormalities |
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Describe Chédiak–Higashi Syndrome |
White blood cells contain lysosomal granules, there is abnormal chemotaxis, easy bruising and albinism. These kids have very blonde hair, white skin and blue eyes. Frequent infections of lung and skin with staph, strep and pneumococcal |
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How is Chédiak–Higashi inherited? |
Autosomal recessive |
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Describe Shwachman-Diamond syndrome |
Osteopenia, metaphyseal dysplasia, thoracic/rib dystrophies, and duplicated distal thumb associated with neutropenia, exocrine pancreatic insufficiency, and skeletal anomalies. |
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What are signs of galactosemia and what infection are these babies at increased risk of? |
galactosemia, due to complete or near complete deficiency of the enzyme galactose-1-phosphate-uridyl transferase. Breast milk and many infant formulas contain high amounts of lactose, made up of equal parts of glucose and galactose. Absence of the enzyme leads to accumulation of galactose-1-phosphate leading to renal, hepatic, and central nervous system damage. Associated signs and symptoms include poor feeding associated with failure to thrive, vomiting, lethargy, irritability, jaundice, cataracts, hepatomegaly, and seizures. Newborns with galactosemia are at increased risk of neonatal sepsis due to Escherichia coli (E. coli). |
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How is galactosemia diagnosed? |
demonstrating low or absent serum levels of galactose-1-phosphate-uridyl transferase. |
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Name three inborn errors of metabolism with metabolic acidosis and elevated ammonia |
Proprionic acidemia Methylmalonic acidemia Fatty acid oxidation defects |
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Name 2 inborn errors of metabolism with metabolic acidosis and normal ammonia |
Maple syrup urine disease Some organic acidemias |
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Name 2 inborn errors of metabolism with metabolic acidosis and normal ammonia |
Maple syrup urine disease Some organic acidemias |
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Name 2 inborn errors of metabolism with normal ABG and elevated ammonia |
Urea cycle defect Transient hyperammonemia |
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Name 2 inborn errors of metabolism with metabolic acidosis and normal ammonia |
Maple syrup urine disease Some organic acidemias |
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Name 2 inborn errors of metabolism with normal ABG and elevated ammonia |
Urea cycle defect Transient hyperammonemia |
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Name three inborn errors of metabolism with normal ABG and normal ammonia |
Aminoacidopathy Galactosemia Non-ketotic hyperglycemia |
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Describe Smith-Lemli Opitz |
microcephaly, intellectual disability, and multiple malformations of internal organs. Infants with Smith-Lemli-Optiz have syndactyly of the 2nd and 3rd toes, ptosis, genital anomalies, hypotonia, and feeding difficulties. The syndrome is caused by a cholesterol metabolism defect. |
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How is Bernard Soulier inherited and what is the defect? |
inherited deficiency of glycoprotein 1b. Autosomal recessive |
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After cystic fibrosis, what’s the second most common cause of exocrine pancreatic insufficiency? What are unique features of this disease and how is it different from cystic fibrosis? |
Shwachman-Diamond syndrome (SDS), an AR disorder have normal (< 40 mmol/L) sweat chloride results. Nearly all children with SDS have chronic, intermittent or cyclic neutropenia, often associated with anemia and/or thrombocytopenia. Patients are at risk of recurrent bacterial and fungal infections secondary to neutropenia and neutrophil dysfunction. Associated skeletal anomalies are common and include abnormal growth plate and metaphyseal development, leading to skeletal deformities increased risk of pathologic fractures; thoracic dystrophy and bifid thumbs are common. |
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Name two diseases with impaired macrophage Function |
Gaucher disease and hemosiderosis |
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Name 6 drugs causing Stevens Johnson |
sulfa-based antibiotics, phenytoin, phenobarbitol, carbamazepine, lamotrigine and penicillins |
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Describe incontenitia pigmenti |
blistering rash in infancy, followed by wart-like skin growths. The growths become swirled grey or brown patches in childhood, and then swirled light patches in adulthood. Eosinophilia in serum and biopsy. Associated abnormalities are very common, including delayed dentition, pegged or conical teeth, and partial anodontia. Scarring alopecia and hair anomalies are common. |
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Describe Bloom Syndrome |
also known as congenital telangiectatic erythema, is an autosomal recessive disorder characterized by telangiectasias and photosensitivity, severe cheilitis, growth deficiency associated with primary hypogonadism, and increased susceptibility to neoplasms. The face is long and narrow with small mandibles, malar hypoplasia, and large protruding ears. In addition, patients have disproportionately long limbs associated with progressive contractures of the hands and feet. |
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Describe stickler syndrome |
midface hypoplasia, micrognathia, cleft palate, glossoptosis, high myopia, and a risk for retinal detachment. |
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Describe sweet syndrome |
also called acute febrile neutrophilic dermatosis, is a rare skin condition that presents with fever and painful skin lesions that appear mainly on the arms, neck, face, and back. The exact cause remains unknown. |
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Name comorbidities in those with prune belly syndrome |
hydronephrosis, bladder dysfunction associated with bladder enlargement, dilation of the ureters, and various degrees of renal dysplasia. Pulmonary hypoplasia |
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Describe WAGR |
Wilms tumor, aniridia, genitourinary anomalies, and reduced intellectual abilities) is used to describe a constitutional gene deletion syndrome associated with deletion of one copy of chromosome 11p13. Genitourinary anomalies are observed only in males and may include hypoplastic genitalia, hypospadias, cryptorchidism, fusion and ectopia of the kidney, and duplications of the collecting systems.
Patients are also at increased risk of gonadoblastoma, abnormalities in virilization, and, in some cases, obesity. Also known as nephroblastoma, Wilms tumor |
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If there are no urinary reducing substances nor ketones in an infant with hypoglycemia, what should you think of and what test should you obtain? |
Think of fatty acid oxidization disorder such as medium chain acyl Co-A dehydrogenase deficiency (MCAD) and obtain acylcarnitine profile |