Stenosis of the foramen magnum and rostral spinal canal, with spinal cord deformity, in Jeune's asphyxiating thoracic dystrophy.
Ventilatory compromise in Jeune's asphyxiating thoracic dystrophy (JTD) generally is attributed to abnormalities in thoracic configuration that produce restrictive pulmonary disease and pulmonary hypoplasia. We present our findings following dissection and roentgenography of the base of the skull and the vertebral column in a premature infant with JTD. They suggest that malformations of the vertebral laminae in JTD may lead to compression of the distal medulla and rostral cervical spinal cord. Similar compression is known to contribute to ventilatory dysfunction in other osteochondrodysplasias. It is possible that vertebral laminar malformations may be partly responsible for ventilatory dysfunction in some patients with JTD. We recommend attention at necropsy in JTD to malformations of the neural arch and to their possible sequelae.
Knisely
A S
AS
Department of Pathology, Children's Hospital of Philadelphia, Pennsylvania 19104.
Steigman
C K
CK
D000015:Abnormalities, Multiple / Q000473:pathology; D001238:Asphyxia Neonatorum / Q000000981:diagnostic imaging / Q000473:pathology*; D005260:Female; D005539:Foramen Magnum / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D007231:Infant, Newborn; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000473:pathology*; D011859:Radiography; D013116:Spinal Cord / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013130:Spinal Stenosis / Q000151:congenital* / Q000000981:diagnostic imaging; D013909:Thorax / Q000002:abnormalities*