Section 3 Congenital Anomalies Flashcards
Congenital hypotonia
low muscle tone; common in Down syndrome; can shake hands with the mother to diagnose (she is probably affected)
Arthrogryposis
contracted joints; knees and elbows may be folded backward; club foot is common
Congenital torticollis
head tilted to one side, injuries to SCM or cervical vertebrae malformations usually to blame
Poland anomaly
absence of the pectoral muscle on one side, ipsilateral finger syndactyly
Achondroplasia
you have to know this by the end of genetics; affects all bones that develop via endochondral ossification; FGFR3 disorder
Thanatophoric dysplasia
very short limbs and an extremely small rib cage that interferes with breathing = fatal
Craniosynostosis
FGFR2 disorder -> fusion of cranial sutures in utero; common in Crouzon and Apert syndromes
Acrania
absence of neurocranium associated with meroencephaly = stillborn
Klippel-Feil Syndrome
fused cervical vertebrae
Spina Bifida
incomplete fusion of the cranial end of the neural tube
Accessory lumbar ribs
little clinical relevance
Accessory cervical ribs
pressure the subclavian artery and vein - associated with thoracic outlet syndrome
Jarcho-Levin syndrome
multiple rib anomalies = insufficient chest expansion = lethal
Amelia
absence of a limb
Meromelia
incomplete formation of a limb - disturbance during the 5th week
