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Pena‐Shokeir phenotype with major CNS‐malformations: clinicopathological report of two siblings
Author(s) -
Erdl R.,
Schmidtke K.,
Jakobeit M.,
Nerlich A.,
Schramm T.
Publication year - 1989
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1989.tb03175.x
Subject(s) - phenotype , pathological , pathology , medicine , hyperplasia , endocrine system , biology , genetics , endocrinology , gene , hormone
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.