Asphyxiating @entity2063 is an @entity74 characterised by an abnormally small thorax, variable @entity530 . Renal and pancreatic symptoms are found in longer survivors, although most cases die in infancy of @entity1576 . Seven neonatal cases were studied at necropsy. These cases ranged in gestational age from 32 to 40 weeks. One was stillborn and the other six survived from 1 hour to 10 days. Two were sibs born to consanguineous parents. Dwarfing was not pronounced and the extremities were shortened in only one @entity1 who also had @entity5767 . All seven showed visceral changes in addition to @entity79 . Endochondral ossification was irregular in sections of femur, vertebra, and rib. @entity358 was associated with the small thorax typical of this disorder. Periportal @entity82 and bile duct proliferation were seen in sections of liver, and in one case @entity82 was found. @entity1577 was variable. These necropsy findings correlate with later clinical manifestations of the disease and emphasise the multisystem nature of this disorder.

Necropsy findings in neonatal asphyxiating XXXX .

@entity1 :: ('9606', 'Species') :: ['infant'] @entity82 :: ('MESH:D005355', 'Disease') :: ['fibrosis', 'cirrhosis'] @entity2063 :: ('MESH:C537571', 'Disease') :: ['thoracic dystrophy'] @entity5767 :: ('MESH:D017689', 'Disease') :: ['polydactyly'] @entity530 :: ('MESH:D010386', 'Disease') :: ['shortening of the extremities, and pelvic anomalies'] @entity79 :: ('MESH:D001847', 'Disease') :: ['abnormalities of bone'] @entity358 :: ('MESH:D008171', 'Disease') :: ['Pulmonary hypoplasia'] @entity1576 :: ('MESH:D012131', 'Disease') :: ['respiratory failure'] @entity74 :: ('MESH:D030342', 'Disease') :: ['autosomal recessive disorder'] @entity1577 :: ('MESH:D003550', 'Disease') :: ['Pancreatic fibrosis']
@entity2063 :: (MESH:C537571,Disease) :: ['thoracic dystrophy']
