I chose osteogenesis imperfecta II. This generally a lethal skeletal dysplasia, but I did find one example of a baby who was  2 months old at the time of the case report. Of course this poor baby had multiple fractures and many old healed fracures. https://sonoworld.com/TheFetus/page.aspx?id=2824

The scan took place at 35 weeks and the baby was also born at this time due to premature rupture of membranes. The image below shows the humerus measuring well below the 35 wk gestational at 24 weeks instead. 

The femur also measured around 25 weeks and was noticiably distorted

imaging after birth showed slight under mineralization of the calvarium

unfortunetly many of the fractures were unable to be detected with ultrasound and the 12 and 20 week anatomy scan were performed by a family practitioner. 

Another study done at 22weeks shows a noticable demineralizatin of the fetal calvarium. All fetal measurements were well below the standard. 

Below are the findings. The pregnancy was interupted at 23 weeks and the suspition of osteogenesis imperfecta were confirmed. 

• hypomineralized fetal skull resulting in better visualization of the proximal intracranial structures;

• bell-shaped, narrow thorax with irregular fractured ribs and formation of calluses;

• normal four-chamber view of the heart;

• short upper limbs (humerus 24 mm), short and fractured radius and ulna, club hand and redundant soft tissues in the forearm;

• short lower limbs (femurs 20 mm - lower than 5th percentile), club feet with short toes;

• normal amniotic fluid volume (polyhydramnios could develop later in pregnancy);

• decreased fetal movements.

I wanted to take the time to differentiate Achondrogenesis vs Achondroplasia because I thought these were the same pathology at first. 

ACHONDROGENESIS (images labeled AAAA)

Definition: rare, lethal condition resulting in abnormal development of the bones and cartilage.

Sono findings: severly shortened limbs (micromelia), absent mineralization of skull, spine, pelvis, and limbs, large skull, narrow chest & distended abdomen, polyhydramnios

Viability: poor-results in stillbirth or early death

ACHONDROPLASIA (images labeled BBBB)

Definition: a disorder that results in abnormal bone growth and dwarfism

Sue used an analogy here....achondroPLAYsia, these tikes can survive and are able to play around.

Sono findings: macrocrania (BPD will be off), frontal bossing, flattened nasal bridge, micromelia (femur length will be off), trident hand

Viability: [2 types] Heterozygous: nonlethal, good prognosis. Homozygous: occurs when both parents are dwarfs, usually fatal within the first 2 yrs of life.

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