Pena-Shokeir phenotype with major CNS-malformations: clinicopathological report of two siblings.
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.
Erdl
R
R
Children's Poliklinik, University of Munich, FRG.
Schmidtke
K
K
Jakobeit
M
M
Nerlich
A
A
Schramm
T
T
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