Chapter 64 Flashcards
Shortening of middle segments
Mesomelia
Shortening of entire extremity
Micromelia
Shortening of distal segments
Acromelia
Most common lethal
Thanatophoric
Lethal short limb dwarfism
Clover leaf skull
Ventriculomegaly
Protuberant abdomen
Thanatophoric
Most common nonlethal
Achondroplasia
Short squat bones
Achondroplasia
Defect in cartilage of epiphyseal bones
Achondroplasia
Advanced paternal age risk
Achondroplasia
When do we see femoral or humoral length fall behind SD in achondroplasia
After 22 weeks
Extremities notably shortened
Normal trunk
Enlargement of head
Heterozygous achondroplasia
Short limb dwarfism affecting fetuses of achondroplastic parents
Homozygous achondroplasia
Cartilage malformation
Abnormal bone and hypomineralization
Achondrogenesis
Which type of achondrogenesis is more severe
Type 1- Parenti Fraccaro
Flipper like appendages
Lethal
Long bone and trunk shortening
Achondrogenesis
Disorder of collagen production
Brittle bones
Osteogenesis imperfecta
Hypomineralization
Multiple fractures
Bell shaped thorax
Compression of chest
Osteogenesis imperfecta
Hypomineralization caused by alkaline phosphatase deficiency
Hypophosphatasia
Similar to OI type 2 and achondrogenesis
Hypophosphatasia
Bowed or fractured bones
Poorly ossified cranium
Ribbon like bowed limbs
Hypophosphatasia
Hitchhiker thumb
Scoliosis
Talipes
Diastrophic dysplasia
Bent or bowing or long bones
Lethal and rare
Camptomelic dysplasia
Rare phocomelia and facial anomalies
Roberts syndrome
Survivors are growth restricted with severe mental retardation
Roberts syndrome
Seal like extremities
Bilateral cleft lip
Hypertelorism
Microcephaly
Roberts syndrome
Short ribs, limbs and polydactyly
Short rib polydactyly syndrome
Narrow thorax and ribs
Polydactyly
Micromelia
Midline facial cleft
Short rib polydactyly syndrome
Asphyxiating thoracic dysplasia
Jeunes syndrome
Small thorax
Rhizomelia
Renal dysplasia
Jeunes syndrome
Increased frequency in Amish
Ellis van creveld syndrome
Limb shortening
Narrow thorax
Polydactyly
Cardiac defects
Ellis van creveld syndrome
Malformation of caudal end of neural tube
Caudal regression syndrome
Sacral Agenesis
Talipes
Contractures or decreased movement
Caudal regression syndrome
Mermaid syndrome
Sirenomelia
Extreme for of caudal regression
Sirenomelia
Fusion of lower extremities
Bilateral renal Agenesis
Single umbilical artery
Oligo
Sirenomelia
Severe contractures of extremities
Abnormal innervation
Athrogryposis multiplex congenita
Rigid extremities
Flexed arms
Hyperextended knee
Clenched hands
Athrogryposis
Joint webbing and multiple contractures
Lethal multiple pterygium syndrome
Limb contractures
Cystic hygroma
Webbing of joints
Pterygium
Clenched hands Rocker bottom feet Talipes Joint contractures Similar to trisomy 18
Pena Shokeir syndrome
Absence of one or more extremities
Amelia
Webbing or fusion of digits
Syndactyly
Split hand
Lobster claw
Ectrodactyly
More than 5 digits
Polydactyly
Overlapping digits
Clinodactlyly
Persistent abnormal inversion of the foot perpendicular to the lower leg
Club foot or talipes
Prominent heel and convex sole
Rocker bottom feet
Complex lesions with or without calcifications
Can become large
Polyhydramnios
Teratoma
Shortening of prox segments
Rhizomelia
