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Alisha Shared "Week 4 congenital anomalies" - 14 Picmonics

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Week 4 congenital anomalies

Turner Syndrome
Signs and Symptoms
Female (XO)
Short stature
Shield Chest
Cystic Hygroma (Webbing of Neck)
Lymphedema in Hands and Feet
Ovarian Dysgenesis
Streak Ovary
Decreased Estrogen
Increased FSH
Increased LH
Dysgerminoma
Bicuspid Aortic Valve
Preductal Coarctation of the Aorta
Horseshoe Kidney
Menopause before Menarche
Amenorrhea
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5 mins
Edwards Syndrome
Pathophysiology
Trisomy 18
Signs and Symptoms
Intellectual Disability (Mental Retardation)
Rocker Bottom Feet
Ventricular Septal Defect (VSD)
Clenched Hands
Overlapping Fingers
Low-Set Ears
Micrognathia
Prominent Occiput
Omphalocele
Meckel's Diverticulum
Horseshoe Kidney
Malrotation of Intestines
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3 mins
Down Syndrome
Pathophysiology
Trisomy 21
Meiotic Nondisjunction
Signs and Symptoms
Intellectual Disability (Mental Retardation)
Single palmar crease
Flat Facies
Duodenal Atresia
Hirschsprung's Disease
Septum Primum Type ASD
Endocardial Cushion Defects
Prominent Epicanthal Folds
Increased Risk of Acute Lymphoblastic Leukemia
Alzheimer's Disease
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3 mins
Patau Syndrome
Pathophysiology
Trisomy 13
Signs and Symptoms
Severe Intellectual Disability
Microcephaly
Holoprosencephaly
Microphthalmia
Polydactyly
Cleft Lip/Cleft Palate
Rocker Bottom Feet
Omphalocele
Cystic Kidneys
Ventricular Septal Defect (VSD)
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2 mins
Marfan Syndrome
Mechanism
Fibrillin-1 Mutation
Symptoms
Autosomal Dominant
Tall
Arachnodactyly
Pectus Excavatum
Hypermobile Joints
Aortic Aneurysm And Dissection
Mitral Valve Prolapse (MVP)
Subluxation of Lens (Superior)
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2 mins
Tay-Sachs Disease
Pathophysiology
Autosomal Recessive
Hexosaminidase A Deficiency
Increased GM2 Ganglioside
More Common in Ashkenazi Jewish Population
Signs and Symptoms
Cherry Red Spot on Macula
Neurodegeneration
Developmental Delay
Diagnosis
Onion Skin Lysosomes
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1 min
Cri Du Chat
Pathophysiology
Congenital Deletion of Short Arm of Chromosome 5p
Signs and Symptoms
High Pitched Cry/Mewing
Microcephaly
Hypotonia
Difficulty Sucking and Swallowing
Epicanthal Folds
Widely Spaced Eyes
Wide & Flat Nasal Bridge
High Arched Palate
Intellectual Disability
Cardiac Abnormalities
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3 mins
Williams Syndrome
Pathophysiology
Microdeletion Of Long Arm Of Chromosome 7
Elastin Gene
Signs and Symptoms
Elfin Facies
Intellectual Disability
Extreme Friendliness with Strangers
Well Developed Verbal Skills
Cardiovascular Problems
Hypercalcemia
Increased Sensitivity To Vitamin D
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2 mins
Phenylketonuria (PKU)
Pathophysiology
Decreased Phenylalanine Hydroxylase
Decreased Tetrahydrobiopterin Cofactor
Autosomal Recessive
Tyrosine Becomes Essential
Phenylalanine Found in Nutrasweet
Symptoms
Musty or Mousy Body Odor
Growth Retardation
Seizures
Intellectual Disability
Hypopigmentation
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2 mins
Alkaptonuria
Autosomal Recessive
Deficiency of homogentisic acid oxidase
In degradative pathway of tyrosine to fumarate
Homogentisic acid harmful to cartilage
Arthritis
Dark Connective Tissue
Urine turns black on standing
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1 min
Toxoplasma gondii TORCH
Signs and Symptoms
Congenital TORCH Infection
Mom Usually Asymptomatic
Rarely Lymphadenopathy
Nonspecific TORCH Signs
Intrauterine Growth Retardation
Hepatosplenomegaly
Deafness
Chorioretinitis
Hydrocephalus
Diagnosis
Calcifications
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1 min
Parvovirus B19
Characteristics
DNA
Single Stranded
Linear
Smallest DNA virus
Non-enveloped
Signs and Symptoms
5th Disease
Slapped Cheek Rash in Children
Erythema Infectiosum
Hydrops Fetalis
RBC aplasia
Arthritis in Adults
Aplastic Crisis in Sickle Cell
Myocarditis
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2 mins
Rubella TORCH
Signs and Symptoms
Nonspecific TORCH Symptoms
Patent Ductus Arteriosus
Pulmonary Artery Hypoplasia
Cataracts
Deafness
Blueberry Muffin Rash
Glaucoma
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1 min
Cytomegalovirus (CMV) TORCH
Signs and Symptoms
Nonspecific TORCH symptoms
Intrauterine Growth Restriction (Retardation)
Deafness
Microcephaly
Seizures
Periventricular Calcifications
Petechial Rash
Blueberry Muffin Rash
Chorioretinitis
Diagnosis
Urine Viral Culture or PCR
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2 mins

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