Abstract |
Pai syndrome is a rarely encountered disease characterized by findings of median cleft lip, facial skin polyps, nasal mucosal polyps and midline central nervous system lipoma. We report a case with prenatal detection of a pericallosal lipoma and a skin tag on the forehead. After delivery, the diagnosis was confirmed as a case of Pai syndrome.
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Authors | Z Ocak, H F Yazicioglu, M Aygun, M K I Ilter, T Ozlu |
Journal | Genetic counseling (Geneva, Switzerland)
(Genet Couns)
Vol. 24
Issue 1
Pg. 1-5
( 2013)
ISSN: 1015-8146 [Print] Switzerland |
PMID | 23610859
(Publication Type: Case Reports, Journal Article)
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Topics |
- Abnormalities, Multiple
(diagnosis)
- Adult
- Agenesis of Corpus Callosum
(diagnosis)
- Brain
(pathology)
- Cesarean Section
- Cleft Lip
(diagnosis)
- Cleft Palate
- Coloboma
(diagnosis)
- Diagnosis, Differential
- Echoencephalography
(methods)
- Female
- Humans
- Infant, Newborn
- Lipoma
(complications, diagnosis, diagnostic imaging)
- Magnetic Resonance Imaging
(methods)
- Male
- Nasal Polyps
(diagnosis)
- Pregnancy
- Skin Diseases
(diagnosis)
- Skin Neoplasms
(complications, diagnostic imaging)
- Ultrasonography, Prenatal
(methods)
|