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A case report on midline facial cleft associated with ambiguous genitalia and umbilical defect

Authors:

H. A. Amaratunga ,

University of Peradeniya, LK
About H. A.
Department of Anatomy, Faculty of Medicine
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S. P. M. Peiris,

LK
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A. G. G. Wijerathne,

University of Peradeniya, LK
About A. G. G.
Department of Anatomy, Faculty of Medicine
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J. K. Dissanayake

University of Peradeniya, LK
About J. K.
Department of Anatomy, Faculty of Medicine
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Abstract

Congenital midline facial anomalies are a rare group of disorders that are often accompanied by a constellation of other clinical anomalies, many of which have been recognized as syndromes. The index case is a child with midline facial defect with cleft palate associated with ambiguous genitalia and an umbilical defect. Differential diagnoses including Holoprocencephaly (HPE), Midline facial Plane defect, Oral-facial Digital syndrome, and Kallmanns syndrome are discussed. Although the most probable diagnosis is HPE, ambiguous genitalia and umbilical deformity are atypical findings which merit special mention.
How to Cite: Amaratunga HA, Peiris SPM, Wijerathne AGG, Dissanayake JK. A case report on midline facial cleft associated with ambiguous genitalia and umbilical defect. Sri Lanka Anatomy Journal. 2017;1(1):60–3. DOI: http://doi.org/10.4038/slaj.v1i1.28
Published on 30 Jun 2017.
Peer Reviewed

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