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The Wolf‐Hirschhorn syndrome
Author(s) -
Lazjuk G. I.,
Lurie I. W.,
Ostrowskaja T. I.,
Kirillova I. A.,
Nedzved M. K.,
Cherstvoy E. D.,
Silyaeva N. F.
Publication year - 1980
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.1399-0004.1980.tb01357.x
Subject(s) - microphthalmos , agenesis , diaphragmatic hernia , dysplasia , medicine , anatomy , ectodermal dysplasia , pathology , hernia , dermatology , surgery
Most cases of Wolf‐Hirschhorn syndrome occurring among children who die during the perinatal period are not diagnosed by morphologists. However, analysis of the morphological data on the Wolf‐Hirschhorn syndrome reveals that association of typical external features and abnormalities of the brain (shortening of the H2 area of Ammon's horn, dystopic dysplastic gyrae in the cerebellum), eyes (colobomata, microphthalmos, retinal dysplasia) and kidneys (bilateral or unilateral agenesis, cystic dysplasia or polycystosis) with diaphragmatic hernia allows the establishment of a diagnosis of the syndrome without cytogenetic investigation.