ITEM METADATA RECORD
Title: Lethal neonatal mandibuloacral dysplasia
Authors: Seftel, M D ×
Wright, C A
Po, P L
de Ravel de l'Argentière, Thomy #
Issue Date: Dec-1996
Publisher: Wiley-Liss
Series Title: American Journal of Medical Genetics vol:66 issue:1 pages:52-4
Abstract: We report on a case of lethal neonatal mandibuloacral dysplasia. Large confluent fontanelles, sparse fine hair and eyebrows, pseudo-exophthalmos, micrognathia, bulbar digits, and short clavicles were present. In addition, we describe for the first time the presence of glandular hypospadias in this disorder. We propose that this neonatally lethal case represents severe expression of mandibuloacral dysplasia.
ISSN: 0148-7299
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Non-KU Leuven Association publications
× corresponding author
# (joint) last author

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