atelosteogenesis type 2

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atelosteogenesis type 2

An autosomal recessive condition (OMIM:256050) characterised by short limbs, small chest, scoliosis, equinovarus type clubfoot (talipes equinovarus), abducted thumbs and great toes, and cleft palate. Patients die of respiratory insufficiency shortly after birth due to airway collapse and pulmonary hypoplasia resulting from a small rib cage in utero.

Molecular pathology
Defects of SLC26A2, which encodes a sulfate transporter critical for cartilage formation that may play a role in enchondral bone formation, cause atelosteogenesis type 2.
References in periodicals archive ?
PR2 McCollum managed to get onboard the Green Glory by waiting until the ship was in an extreme roll; he timed the wave action to grab the deck and pulled himself onboard while AO2 Jack remained in the water.
Upon our return to the scene, we recovered the four survivors and AO2 Jack from the drifting raft.
The survivors were hoisted down on the hook from the helicopter, two at a time, with AO2 Jack assisting them on deck to remove the rescue strop.
AO2 Juan Bautista supervises AT2 Doug Chambers on the use of an M-16 rifle at Naval Air Station Fort Worth, Texas.
AO2 Vincent and AN Spears were assisting a sister squadron's beach detachment launch a newly accepted aircraft when they discovered two station pylons were extremely loose and unsafe for flight.
Not finished with the task at hand, AO2 Vincent and AN Spears organized a working party and expeditiously unloaded the pod and drop tank, properly torqued both pylons to specifications, and launched the aircraft to Navy Fallon less than two hours after its scheduled launch.
To avert a problem, AO2 Avendano grabbed the airman.
5 conditional tranches Unit 1: Pre-Registration online Unit 2: Designing and editing tickets, Unit 3: Alerts users in the event of disturbance Unit 4: online payment, Unit 5: Recovery and integration of data AO2 (organizing authorities junior), additional training.