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Mandibulofacial dysostosis, acral anomalies and frontonasal dysplasia: a new form of acrofacial dysostosis.
Clin Dysmorphol. 2008 Apr; 17(2):145-148.CD

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.

Authors+Show Affiliations

Department of Morphology, Medical Genetics Center Department of Pathology, Federal University of São Paulo, Brazil.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

18388791

Citation

de Macena Sobreira, Nara Lygia, et al. "Mandibulofacial Dysostosis, Acral Anomalies and Frontonasal Dysplasia: a New Form of Acrofacial Dysostosis." Clinical Dysmorphology, vol. 17, no. 2, 2008, pp. 145-148.
de Macena Sobreira NL, Alves MTS, Alvarez Perez AB, et al. Mandibulofacial dysostosis, acral anomalies and frontonasal dysplasia: a new form of acrofacial dysostosis. Clin Dysmorphol. 2008;17(2):145-148.
de Macena Sobreira, N. L., Alves, M. T. S., Alvarez Perez, A. B., Brunoni, D., & Cernach, M. C. S. P. (2008). Mandibulofacial dysostosis, acral anomalies and frontonasal dysplasia: a new form of acrofacial dysostosis. Clinical Dysmorphology, 17(2), 145-148. https://doi.org/10.1097/MCD.0b013e3282f0b758
de Macena Sobreira NL, et al. Mandibulofacial Dysostosis, Acral Anomalies and Frontonasal Dysplasia: a New Form of Acrofacial Dysostosis. Clin Dysmorphol. 2008;17(2):145-148. PubMed PMID: 18388791.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mandibulofacial dysostosis, acral anomalies and frontonasal dysplasia: 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 - 2008/4/5/pubmed PY - 2008/5/28/medline PY - 2008/4/5/entrez SP - 145 EP - 148 JF - Clinical dysmorphology JO - Clin Dysmorphol VL - 17 IS - 2 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. SN - 0962-8827 UR - https://www.unboundmedicine.com/medline/citation/18388791/Mandibulofacial_dysostosis_acral_anomalies_and_frontonasal_dysplasia:_a_new_form_of_acrofacial_dysostosis_ L2 - https://doi.org/10.1097/MCD.0b013e3282f0b758 DB - PRIME DP - Unbound Medicine ER -