Fetal Development Flashcards
What does the mesonephric (Wolffian) duct form?
Ureters
Males: epididymis, vas deferens, seminal vesicles
What does the paramesonephric (Mullerian) duct form?
Uterus, fallopian tubes, cervix, upper 1/3 vagina
What is the common embryologic source of the mesonephric and paramesonephric ducts?
Intermediate mesoderm
Smoking does what to newborn?
Fetal growth restriction
Irritability
Hypertonicity
CHARGE syndrome
Coloboma
Heart defects (TOF, VSD)
Atresia choanae
Retardation of growth/development
Genitourinary anomalies (e.g. cryptorchidism)
Ear abnormalities (eg hearing loss)
Anosmia
Cleft lip/palate
Hypotonia
Diagnose with clinical or CHD7 gene testing
Management of CHARGE syndrome
Place oral airway for respiratory support if choanal atresia
Screening echocardiogram
Renal ultrasound
What is indicated by cyanosis at rest or feeding, while it improves when crying?
Choanal atresia
DiGeorge syndrome
Heart defects (eg interrupted aortic arch)
Hypocalcemia
Thymic hypoplasia
Low-set, posteriorly-rotated ears
Ocular hypertelorism
Chromosome 22q11.2 microdeletion
Fanconi anemia
Inherited bone marrow failure due to defective DNA repair
Pancytopenia
Developmental delay
Short stature
Hypoplastic thumbs
Abnormal skin pigmentation
Abnormal ears
Heart defects
Genital abnormalities
What is size of Fanconi anemia RBCs?
Macrocytic - due to fetal erythropoiesis during periods of chronic hematopoietic stress
How is Fanconi anemia diagnosed?
Demonstrate chromosomal breakage following DNA exposure to interstrand crosslinking agents
Trisomy 13
Colobomas
Microphthalmia
Cleft lip/palate
Microcephaly
Heart defects
Cryptorchidism
Cutis aplasia
Polydactyly
Rocker-bottom feet
Midline defects:
Holoprosencephaly
Omphalocele
VACTERL syndrome
Vertebral
Anal atresia
Cardiac
Tracheoesophageal fistula
Renal
Limb
Trisomy 18
Prominent occiput
Low-set ears
Micrognathia
Heart defects (VSD most common)
Clenched hands with overlapping fingers
Kidney defects
Limited hip abduction
Rocker-bottom feet
Cri-du-chat syndrome
5p deletion:
cat-like cry
characteristic protruding metopic suture
Hypotonia
Short stature
Hypertelorism
Wide and flat nasal bridge
intellectual disability
Turner syndrome comorbidities
Cardiovascular: Aortic coarctation, bicuspid aortic valve, aortic dilatation/dissection
Vision and hearing: Strabismus, myopia, recurrent otitis media, hearing loss
Autoimmune: Celiac disease, hypothyroidism
Osteoporosis
Horseshoe kidney
Turner syndrome vision and hearing defects
What are Turner syndrome signs in infant?
Lymphedema (extremities), cystic hygroma (in head/neck area)
Dysplastic nails
Horseshoe kidney, aortic coarctation, bicuspid aortic valve
Turner syndrome treatment
Growth hormone
Estrogen +/- progestin
Cleft palate increases risk of what?
Middle ear disease and cholesteatoma
Risk factors for cholesteatoma
Recurrent AOM
Chronic middle ear effusions
Tympanostomy tubes
What would cause concave abdomen and barrel chest in newborn?
Congenital diaphragmatic hernia
Endotracheal intubation, nasogastric tube, and surgical correction
What is a positive congenital heart screen (right arm, either leg) requiring echo?
<90% in either extremity
<95% in both extremities
>3% difference in extremities
Describe the cardiomyopathy of infants with diabetic mothers
Treatment?
Hypertrophic, thick IV septum (glycogen and fat), small LV
IV fluids, beta-blockers to increase blood volume (only needed in neonatal period)
Prader-Willi syndrome signs
Hypotonia
Weak suck/feeding –> Hyperphagia/obesity
Short, hypogonadism (due to hypothalamic/pituitary dysfunction)
Intellectual disability
Narrow forehead, almond-shaped eyes, downturned mouth
Prader-Willi diagnosis, complications
Diagnosis: loss of expression on paternal chromosome 15 (q11-q13)
Complications: Sleep apnea, T2DM, gastric distension/rupture, death by choking
Phenylketonuria - gene, signs
Phenylalanine hydroxylase
Seizures, microcephaly, intellectual disability
Fair complexion, eczema
Musty body odor
Beckwith-Wiedemann signs
Macrosomia
Hemihyperplasia
Omphalocele
Macroglossia
What is difference between Niemann-Pick and Tay-Sachs?
Niemann-Pick - sphingomyelinase deficiency; hepatosplenomegaly; areflexia
Tay-Sachs - beta-hexosaminidase A deficiency; hyperreflexia
Both age onset 2-6 months, autosomal recessive Ashkenazi, cherry-red macula, loss of motor milestones, hypotonia, feeding difficulties
Beyond what age in males do you refer for orchiopexy if unilateral undescended testis?
> =6 months of age
If bilaterally palpable, same as above
If bilaterally unpalpable, evaluate for sex development disorders:
Karyotype, pelvic ultrasound, adrenal/gonadal hormones
What is Albright hereditary osteodystrophy? Signs?
Congenital pseudohypothyroidism (end-organ unresponsiveness to PTH)
Short metacarpal bones, short stature, round facies
Rett syndrome is which gene?
MECP2 - speech regression, abnormal gait, loss of purposeful hand movements (eg repetitive hand wringing)
Regression begins after 6 months
Seen in girls
Signs of Rett
Speech regression
Loss of purposeful hand use, sterotyped movements
Gait abnormalities
Microcephaly
Seizures
Breathing abnormalities
Sleep disturbance
Autistic features
Which chromosome is Huntington?
4p CAG trinucleotide repeat expansion
What is Angelman syndrome?
Neurodevelopmental disorder - absence of maternal UBE3A gene
Repetitive hand flapping, jerky gait, happy demeanor, developmental delay
Seizures
Which syndrome is characterized by self-mutilation in early childhood?
Lesch-Nyhan syndrome - X-linked recessive deficiency of hypoxanthine-guanine phosphoribosyltransferase –> hypoxanthine and uric acid accumulation
Along with:
Delayed milestones and hypotonia in infancy
Extrapyramidal and pyramidal symptoms
Gouty arthritis in late, untreated disease
Friedreich ataxia - gene, signs
GAA repeat in frataxin protein - affects brain, heart, pancreas
Neurologic dysfunction - gait and limb ataxia in adolescence, loss of position/vibration
Hypertrophic cardiomyopathy - arrhythmia, HF, sudden death
Diabetes
Skeletal - kyphoscoliosis, pes cavus
Diamond-Blackfin anemia - signs
Defect of erythroid progenitors
Craniofacial abnormalities (cleft palate)
Triphalangeal thumbs
Increased risk of malignancy
Macrocytic anemia
Reticulocytopenia
Corticosteroids
RBC transfusions
WAGR
Wilms tumor (bilateral and earlier (age 1-3) than in isolation - screen every 3 mo
Aniridia
Genitourinary abnormality
Retardation/intellectual disability
What electrolyte may be low in a neonate with fetal growth restriction?
Hypocalcemia - placental dysfunction decreases Ca transfer to fetus
Sturge-Weber syndrome - signs
Neurocutaneous disorder - leptomeningeal capillary-venous malformations of brain and eye
Facial port-wine stain
Homocystinuria - gene, treatment
Cystathionine synthase deficiency –> errors in methionine metabolism –> elevated homocysteine and methionine
Treatment: Vitamin B6, folate, B12
Antiplatelets or anticoagulation
What signs are in homocystinuria but not Marfan syndrome?
Fair hair and eyes
Developmental delay
Cerebrovascular accident - due to pathologic changes in vessel walls, increased adhesiveness of platelets
Fabry disease - gene, signs
Alpha-galactosidase deficiency
Angiokeratomas (hard bumps on skin)
Peripheral neuropathy
Asymptomatic corneal dystrophy
Heart failure
Renal failure
Risk of thromboembolic events
Krabbe disease - gene, signs
Autosomal recessive LSD - galactocerebrosidase deficiency
Intellectual disability
Blindness, deafness
Paralysis, neuropathy, seizures
Hurler syndrome - signs
LSD
Dysostosis multiplex - shortened and thickened long bones, other skeletal findings
Coarse facial features (wide nasal bridge, flat midface)
Developmental delay
Frequent infections
Osteogenesis imperfecta - gene, signs
Type I collagen
Frequent fractures –> minor trauma, blue sclera, conductive hearing loss, dentinogenesis imperfecta (opalescent blue-gray or yellow-brown discoloration of teeth, hypermobile joints
Ehlers-Danlos - gene, signs
Type V collagen
Joint hypermobility, but not recurrent fractures
Important management in homocystinuria
Anticoagulation due to hypercoagulability
What genetic disorder is X-linked dominant?
Fragile X
What genetic disorders are imprinting disorder (deletion of paternal part)?
Angelman
Beckwith-Wiedemann
Prader-Willi - deletion of paternal 15q11-q13
Omphalocele is seen in…
Beckwith-Wiedemann, trisomies
