Autosomal recessive alobar holoprosencephaly with essentially normal faces

Mason Barr; M. Michael Cohen

doi:10.1002/ajmg.10587

Autosomal recessive alobar holoprosencephaly with essentially normal faces

Mason Barr, M. Michael Cohen

Medicine

Medicine

Producción científica: Contribución a una revista › Artículo › revisión exhaustiva

18 Citas (Scopus)

Resumen

Holoprosencephaly is associated with a diagnostic face approximately 80% of the time. We report three siblings with alobar holoprosencephaly and essentially normal faces. A similar family was reported by Khan et al. [1970: Dev Med Child Neurol 12:71-76]. Alobar holoprosencephaly with essentially normal faces has also been observed in infants of diabetic mothers [Barr et al., 1983: J Pediatr 102:565-568].

Idioma original	English
Páginas (desde-hasta)	28-30
Número de páginas	3
Publicación	American Journal of Medical Genetics
Volumen	112
N.º	1
DOI	https://doi.org/10.1002/ajmg.10587
Estado	Published - sep. 15 2002

ASJC Scopus Subject Areas

Genetics
Genetics(clinical)

PubMed: MeSH publication types

Case Reports
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title = "Autosomal recessive alobar holoprosencephaly with essentially normal faces",

abstract = "Holoprosencephaly is associated with a diagnostic face approximately 80% of the time. We report three siblings with alobar holoprosencephaly and essentially normal faces. A similar family was reported by Khan et al. [1970: Dev Med Child Neurol 12:71-76]. Alobar holoprosencephaly with essentially normal faces has also been observed in infants of diabetic mothers [Barr et al., 1983: J Pediatr 102:565-568].",

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Autosomal recessive alobar holoprosencephaly with essentially normal faces

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