Holoprosencephaly and primary craniosynostosis: The Genoa syndrome

G. Camera; M. Lituania; M. M. Cohen

doi:10.1002/ajmg.1320470806

Holoprosencephaly and primary craniosynostosis: The Genoa syndrome

G. Camera, M. Lituania, M. M. Cohen

Medicine

Résultat de recherche: Article › examen par les pairs

14 Citations (Scopus)

Résumé

We report on 2 sibs with holoprosencephaly of the semilobar type, unusual facial appearance not diagnostic of holoprosencephaly, and primary craniosynostosis involving the coronal and lambdoid sutures. The condition represents a newly recognized syndrome, possibly having autosomal recessive inheritance.

Langue d'origine	English
Pages (de-à)	1161-1165
Nombre de pages	5
Journal	American Journal of Medical Genetics
Volume	47
Numéro de publication	8
DOI	https://doi.org/10.1002/ajmg.1320470806
Statut de publication	Published - 1993

ASJC Scopus Subject Areas

Genetics(clinical)

PubMed: MeSH publication types

Case Reports
Journal Article

Accès au document

10.1002/ajmg.1320470806

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abstract = "We report on 2 sibs with holoprosencephaly of the semilobar type, unusual facial appearance not diagnostic of holoprosencephaly, and primary craniosynostosis involving the coronal and lambdoid sutures. The condition represents a newly recognized syndrome, possibly having autosomal recessive inheritance.",

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AB - We report on 2 sibs with holoprosencephaly of the semilobar type, unusual facial appearance not diagnostic of holoprosencephaly, and primary craniosynostosis involving the coronal and lambdoid sutures. The condition represents a newly recognized syndrome, possibly having autosomal recessive inheritance.

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Holoprosencephaly and primary craniosynostosis: The Genoa syndrome

Résumé

ASJC Scopus Subject Areas

PubMed: MeSH publication types

Accès au document

Autres fichiers et liens

Empreinte numérique

Citer