Abnormalities Of Head Size And Shape Flashcards
Genetic defects ( primary causes )associated with microcephaly
Trisomy of 21, 18 and 13
Rubinstein tybhi syndrome
Cornelia de Lange syndrome
Familial microcephaly
Secondary causes for microcephely
Maternal factors
Perinatal factors
CNS injury
Phenylketonuria
Maternal factors causing microcephaly
Touch infections
Alcohol exposure
Phenytoin exposure
Radiation exposure
Gross features of fetal alcohol syndrome
Microcephaly
thin upper lip
Small eye openings
Small philtrum
Gross defects seen in phenytoin exposed baby during pregnancy
Microcephaly
Hypoplasia of nails and phalanges
Cleft palate
Cardiac defects
Inheritance pattern and genetic defect in Rett syndrome
X-linked dominant inheritance
MECP - 2 gene defect
Hand wringing stereotypic movement seen in
Rett syndrome
Late onset microcephaly syndromes
Rett syndrome
Seckel syndrome
Angelman syndrome
Bird like face and beak like nose is seen in which syndrome
Seckel syndrome
Symptoms of Rett syndrome
Loss of previously acquired milestones
Hand wringing movements
Speech defects
Progressive ataxia becomes wheelchair dependent in adolescence
Causes of macrocephaly
↑ fluid retention
Thick skull
Increased brain volume
Genetic causes
Causes of increased fluid in brain, causing macrocephaly
Hydrocephalus
Hydraencephaly
What is +ve in hydranencephaly
Trans illumination test
Causes for thick skull in macrocephaly
Beta thalassaemia major
Achondroplasia
Osteoporosis
