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ESPERIENZE DERMATOLOGICHE

A Journal on Dermatology


Journal of Istituto Dermatologico San Gallicano
Official Journal of the Associazione Dermatologi Ospedalieri Italiani - A.D.O.I.
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Esperienze Dermatologiche 2008 December;10(4):193-6

language: English, Italian

Labiopalatoschisis: case report

Boccia L., Ausanio G., Bernardo I., Iaccarino F., Vendemmia M., Falco L.

Struttura Dipartimentale di Dermatologia pediatrica e Terapia intensiva neonatale, Dipartimento materno-infantile Azienda Ospedaliera di Caserta, Caserta


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We present the clinical case of a preterm female newborn baby suffering from labiopalatoschisis associated with severe brain malformation (holoprosencephaly). The labiopalatoschisis is a malformation of the face, commonly known as “harelip”, which shows a greater or lesser interruption of the upper lip, gum and palate. The holoprosencephaly happens when forebrain is not separated, and occurs between 18 and 28 days of gestation. The incidence is 1/16 000. Although there is a continuum of malformations, the classification of De Myer distinguishes three varieties: alobar, semilobar and lobar. In alobar varieties, the most severe, the interhemispheric fissure and falx cerebri are completely missing, there is a single ventricle, the thalami are merged. In the semilobar variety the two cerebral hemispheres are partially separated but there is only a single ventricle. In the lobar variety the separation of hemispheres is almost complete and fornices are merged. Karyotype evaluation is always proposed, especially for the formulation of the risk of recurrence for subsequent pregnancies, given the lack of compatibility of the malformation with life.

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