Chapter 19 review

Congenital Hip Dislocation (CHD)

Abnormality causing femoral head displacement from acetabulum

Ortolani's sign

Asymmetrical thigh folds, leg length difference, limited abduction in infants

Hirschsprung's disease

Absence of parasympathetic ganglion cells in colon

Anencephaly

Severe malformation resulting in brain or cranial vault absence

Chromosomes

46 in each human cell, 23 pairs

Spina bifida

Neural tube defect with spinal column opening

Myelomeningocele

Severe spina bifida form with meninges and spinal cord protrusion

Meckel's Diverticulum

Ileum outpouching, common GI malformation

Ventricular septal defects

Common heart defects with hole between ventricles

Alleles

Genes aligning on paired chromosomes during fertilization

Tay-Sachs disease

Genetic error in lipid metabolism causing brain toxin accumulation

Chordee

Penis downward curvature from abnormal fibrous tissue

Phenylketonuria (PKU)

Faulty phenylalanine metabolism leading to mental disability

PKU blood testing

Mandatory test 24-48 hours post-birth in the US

Duchenne's MD

Most common muscular dystrophy type with onset at 2-5 years

Buccal smear

Method to evaluate sex chromosomes

Barr bodies

Visualized in females with two X chromosomes

Dominant genotypes

Expressed with a capital letter

Birth defects

Approximately 2% of newborns have significant anomalies

Achondroplasia

Rare genetic disorder causing abnormal epiphyseal cartilage development