"C" trigonocephaly syndrome with diaphragmnatic hernia.

Détails

ID Serval
serval:BIB_252AE22F6A92
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
"C" trigonocephaly syndrome with diaphragmnatic hernia.
Périodique
Genetic Counseling
Auteur⸱e⸱s
Addor M.C., Stefanutti D., Farron F., Meinecke P., Lacombe D., Sarlangue J., Prescia G., Schorderet D.F.
ISSN
1015-8146
Statut éditorial
Publié
Date de publication
1995
Peer-reviewed
Oui
Volume
6
Numéro
2
Pages
113-120
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article
Résumé
We report on a 6-year-old girl with C-trigonocephaly syndrome and diaphragmatic hernia. She is severely mentally retarded and shows the characteristic findings of this syndrome, including trigonocephaly, unusual facial features, especially intra-oral anomalies, low set and dysplastic ears, cardiac anomaly and neonatal hypotonia. Following our presentation at the 5th European meeting of dysmorphology in Strasbourg, P. Meinecke brought to our attention a case of C-trigonocephaly who died in the neonatal period from complications of a diaphragmatic hernia. Another case of C-trigonocephaly without diaphragmatic hernia was communicated to us by D. Lacombe. We report these three observations and present a review of 26 alleged cases.
Mots-clé
Abnormalities, Multiple, Child, Facial Bones, Female, Genetic Counseling, Hernia, Diaphragmatic, Humans, Infant, Infant, Newborn, Male, Mental Retardation, Phenotype, Risk Factors, Skull, Syndrome
Pubmed
Web of science
Création de la notice
28/01/2008 12:58
Dernière modification de la notice
20/08/2019 13:03
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