Neonatal Head + Fetal Skeleton

Ch 65 + neonatal head

What are the 4 windows used to image the neonatal head

anterior, posterior, temporal, mastoid

What is the #1 indication for a neonatal head exam

prematurity

The Mastoid window is used to viewed the ____ + _____ ___ 

cerebellum + cisterna magna 

_____ = MC non-lethal skeletal dysplasia 

Achondroplasia 

What are the 2 types of Achondroplasia 

hetero + homo 

Hetero Achondroplasia is _______ (lethal/nonlethal)

HOMO Achondroplasia is _______ (lethal/nonlethal)

nonlethal, lethal

_____ ____ = MC LETHAL dysplasia

Thanatophoric dysplasia

What is the lethal part of Thanatophoric dysplasia? ____ ____

narrow thorax

Type 1 Thanatophoric dysplasia is seen with _____/____ femurs + ___ verts

short/curved, flat

Type 2 Thanatophoric dysplasia is seen with ___/____ femurs + ___ verts + _____ skull

short/straight, flat, cloverleaf 

_____ _____ = broken bones/fractures (brittle bones nikey)

Osteogenesis Imperfecta

Type ___ + ___ Osteogenesis Imperfecta are severe/lethal 

2+3

Type __ + __ Osteogenesis Imperfecta are considered mild

1+4

Types 1 & 4 Osteogenesis Imperfecta are auto-_____ ONLY and are seen with ____ stature + _____ fractures

dominant, short, multi

This is an example of Type __ Osteogenesis Imperfecta

2

Both Type 2 + 3 Osteogenesis Imperfecta are transmitted in a ____/___ fashion

dominant/recessive

List 3 types of Extremity Shortening

micromelia, rhizomelia. mesomelia

RHIZOmelia = ____ upper arm, ____ forearm 

short, normal 

MESOmelia = ___ upper arm, ____ forearm 

normal, short 

MICROmelia = ____ extremities 

short

____ ____ = Bent Bones Disease

Camptomelic Dysplasia

Camptomelic Dysplasia is ____ (lethal/nonlethal) and is seen with _____(straight/bowed)  _____(long/short)  bones 

lethal, bowed, long 

Camptomelic Dysplasia is a ____(common/rare) short limb dysplasia

rare

What is a DD for Camptomelic Dysplasia?

Thanatophoric

The main difference between Camptomelic Dysplasia + Thanatophoric Dysplasia is

Camptomelic Dysplasia = _____ (common/rare) + _____ symptoms

Thanatophoric Dysplasia = ______ (common/rare) + ____(more/less) severe symptoms

rare, severe, common, less

List 3 Sono characteristics of Camptomelic Dysplasia

• ____ thorax

• _____ femurs

• ___tolerism

small, bowed, hyper

This is an example of ____melia 

Micro

This is an example of ____melia 

Rhizo

This is an example of ____melia 

Meso

This is an example of _____ _____

Camptomelic Dysplasia

_____ syndrome = phocomelia + seen w/cardiac + renal disorders 

Roberts 

Roberts syndrome is seen with ___ + ____ disorders which make the syndrome _____

renal + cardiac, lethal 

Phocomelia = _____ looking

seal

Roberts Syndrome clinically presents with cleft ___/___

lip/palate

Ellis-van Creveld is seen mostly in the _____ community

Amish

____-____ _____ = most commonly seen in Amish community

Ellis-wan Creveld

Ellis-wan Creveld survivors will have _____ intellect + ____ stature 

normal, short 

What heart defect is seen with Ellis-van Creveld? _____ _____ _____ (ASD)

atrial septal defect

A ______ thorax is seen with Ellis-van Creveld

narrow

_____ _____ is also known as Sacral agenesis

Caudal Regression

Sacral Agenesis is seen with ___lateral renal agenesis, _____ use, and ________

bi, cocaine, oligohydramnios 

What syndrome is Caudal Regression/Sacral Agenesis seen with? (think H2O just add water) 

sirenomelia

AMC =

 Arthrogryposis Multiplex Congenita

In  Arthrogryposis Multiplex Congenita (AMC) the baby with be _____ looking/ have ___ mobility + either __/__hydramnios 

stiff, fixed, poly/oligo

Sono of AMC you will see _____ extremities, _____ hands, ____ (club/rockerbottom) foot, ___-extended _____

rigid, clenched, club, hyper, knees 

Club foot ___(does/doesn’t) sit correctly and is a deformed ___/___

Rockerbottom Foot sits _____ (incorrectly/correctly) with a _____ heel 

doesn’t, foot/ankle, correctly, convex

Club foot is more ____, __lateral, and more common in__

common, uni, males 

Another name for Club foot: _____

talipes

Rockerbottom is associated with Trisomy ___

18

What finding do all the lethal skeletal dysplasias have in common? This is considered the “lethal component”? _____ _____

small thorax

_____ ______ = hitch-hikers thumb

Diastrophic Dysplasia