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Achondrogenesis type II (Langer–Saldino) in association with jugular lymphatic obstruction sequence
Author(s) -
Wenstrom Katharine D.,
Williamson Roger A.,
Hoover William W.,
Grant Stanley S.
Publication year - 1989
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970090712
Subject(s) - medicine , sequence (biology) , lymphatic system , association (psychology) , pathology , biology , genetics , psychology , psychotherapist
The prenatal diagnosis of achondrogenesis in association with cystic hygroma is described. Ultrasound findings of severe short‐limbed dwarfism, decreased vertebral ossification, and normal ossification of the calvarium were all consistent with achondrogenesis type II. Although the unusual finding of associated cystic hygroma raised the suspicion of a concurrent chromosome abnormality, the karyotype of both fetal lymphocytes and fetal fibroblasts was normal. Autopsy confirmed dilated lymphatic channels in the basal endothelial layer of the skin, cystic hygroma, and coarctation of the aorta. Although previously unreported, we suggest that the features of this case of achondrogenesis indicate an association with lymphatic stasis and jugular lymphatic obstruction sequence in this syndrome.