Mandibulofacial dysostosis, acral anomalies and frontonasal dysplasia: A new form of acrofacial dysostosis

Nara Lygia De Macena Sobreira; Maria Tereza S. Alves; Ana Beatriz Alvarez Perez; Decio Brunoni; Mirlene C.S.P. Cernach

doi:10.1097/MCD.0b013e3282f0b758

Mandibulofacial dysostosis, acral anomalies and frontonasal dysplasia: A new form of acrofacial dysostosis

Nara Lygia De Macena Sobreira, Maria Tereza S. Alves, Ana Beatriz Alvarez Perez, Decio Brunoni, Mirlene C.S.P. Cernach

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

Abstract

We describe a stillborn female with acrofacial dysostosis and frontonasal dysplasia. She had protrusion of the forehead, with marked hypertelorism and absence of the nose but with the rhinencephalon present. Autopsy showed wide cranial sutures, severe hydrocephalus with separation of the right and left hemispheres of the brain, preservation of the olfactory bulb and first and second cranial nerves. The child also had small kidneys bilaterally, rectal atresia and an absent anus with rectovaginal fistula. These clinical findings suggest a new form of acrofacial dysostosis.

Original language	English (US)
Pages (from-to)	145-148
Number of pages	4
Journal	Clinical Dysmorphology
Volume	17
Issue number	2
DOIs	https://doi.org/10.1097/MCD.0b013e3282f0b758
State	Published - Apr 2008
Externally published	Yes

Keywords

Acrofacial anomalies
Frontonasal dysplasia
Mandibulofacial dysostosis

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Anatomy
Pathology and Forensic Medicine
Genetics(clinical)

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10.1097/MCD.0b013e3282f0b758

Cite this

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title = "Mandibulofacial dysostosis, acral anomalies and frontonasal dysplasia: A new form of acrofacial dysostosis",

abstract = "We describe a stillborn female with acrofacial dysostosis and frontonasal dysplasia. She had protrusion of the forehead, with marked hypertelorism and absence of the nose but with the rhinencephalon present. Autopsy showed wide cranial sutures, severe hydrocephalus with separation of the right and left hemispheres of the brain, preservation of the olfactory bulb and first and second cranial nerves. The child also had small kidneys bilaterally, rectal atresia and an absent anus with rectovaginal fistula. These clinical findings suggest a new form of acrofacial dysostosis.",

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T2 - A new form of acrofacial dysostosis

AU - De Macena Sobreira, Nara Lygia

AU - Alves, Maria Tereza S.

AU - Alvarez Perez, Ana Beatriz

AU - Brunoni, Decio

AU - Cernach, Mirlene C.S.P.

PY - 2008/4

Y1 - 2008/4

N2 - We describe a stillborn female with acrofacial dysostosis and frontonasal dysplasia. She had protrusion of the forehead, with marked hypertelorism and absence of the nose but with the rhinencephalon present. Autopsy showed wide cranial sutures, severe hydrocephalus with separation of the right and left hemispheres of the brain, preservation of the olfactory bulb and first and second cranial nerves. The child also had small kidneys bilaterally, rectal atresia and an absent anus with rectovaginal fistula. These clinical findings suggest a new form of acrofacial dysostosis.

AB - We describe a stillborn female with acrofacial dysostosis and frontonasal dysplasia. She had protrusion of the forehead, with marked hypertelorism and absence of the nose but with the rhinencephalon present. Autopsy showed wide cranial sutures, severe hydrocephalus with separation of the right and left hemispheres of the brain, preservation of the olfactory bulb and first and second cranial nerves. The child also had small kidneys bilaterally, rectal atresia and an absent anus with rectovaginal fistula. These clinical findings suggest a new form of acrofacial dysostosis.

KW - Acrofacial anomalies

KW - Frontonasal dysplasia

KW - Mandibulofacial dysostosis

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Mandibulofacial dysostosis, acral anomalies and frontonasal dysplasia: A new form of acrofacial dysostosis

Abstract

Keywords

ASJC Scopus subject areas

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