title: Pena-Shokeir phenotype with major CNS-malformations: clinicopathological report of two siblings.
abstract: Clinical and pathological features of two siblings of opposite sex with the Pena-Shokeir phenotype are reported. A detailed account of the prenatal and dysmorphological findings is given in one case. A broad range of deformations regarded as secondary to fetal hypokinesia was present, including a number of yet unreported findings. One case showed additional endocrine hyperplasia and left lung trilobation. Both siblings displayed extensive, highly similar CNS-abnormalities. The type and convergence of these malformations differ from previously reported cases and characterize a new familial subtype of the Pena-Shokeir phenotype.
authors.affiliation: Children's Poliklinik, University of Munich, FRG.
authors.forename: R
authors.initials: R
authors.lastname: Erdl
authors.forename: K
authors.initials: K
authors.lastname: Schmidtke
authors.forename: M
authors.initials: M
authors.lastname: Jakobeit
authors.forename: A
authors.initials: A
authors.lastname: Nerlich
authors.forename: T
authors.initials: T
authors.lastname: Schramm
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D001848:Bone Diseases, Developmental / Q000473:pathology; D002490:Central Nervous System / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D013577:Syndrome; D014463:Ultrasonography