1996/09/21 by J M. Bland, D. G Altman · 1,069 citations
Biochemistry, Genetics and Molecular Biology · Mathematics · #Computer science #Genomics and Rare Diseases #Mathematics #Statistics
paper · open access · doi:10.1136/bmj.313.7059.744
published in BMJ 313(7059), 744.1
openalex publication_date 1996/09/21 · openalex created_date 2022/05/12 · openalex updated_date 2026/07/30
We report on four children of both sexes from a highly inbred family with hypotonia, spastic diplegia, microcephaly, microphthalmia, congenital cataract, optic atrophy, ptosis, kyphoscoliosis, short stature, severe mental retardation, and cerebral malformations. Six other children may also have been affected. The differential diagnosis and the possibility of a second family with the micro syndrome are discussed.