Multiple ankyloses, facial anomalies, and pulmonary hypoplasia associated with severe antenatal spinal muscular atrophy

P Moerman; J P Fryns; P Goddeeris; J M Lauweryns

doi:10.1016/s0022-3476(83)80352-7

Multiple ankyloses, facial anomalies, and pulmonary hypoplasia associated with severe antenatal spinal muscular atrophy

J Pediatr. 1983 Aug;103(2):238-41. doi: 10.1016/s0022-3476(83)80352-7.

Authors

P Moerman, J P Fryns, P Goddeeris, J M Lauweryns

PMID: 6875715
DOI: 10.1016/s0022-3476(83)80352-7

Abstract

Two unrelated patients with multiple ankyloses, pulmonary hypoplasia, and characteristic facies syndrome had definite evidence of severe spinal muscular atrophy of prenatal onset. In addition, there were specific changes in the adrenal cortex.

Publication types

Case Reports

MeSH terms

Ankylosis / congenital*
Arthrogryposis / diagnosis*
Arthrogryposis / pathology
Back
Female
Humans
Infant, Newborn
Lung / abnormalities*
Male
Muscles / pathology
Muscular Atrophy / congenital*
Muscular Atrophy / pathology
Spinal Cord / pathology