PRENATAL DETECTION OF PAI SYNDROME WITHOUT CLEFT LIP AND PALATE: A CASE REPORT

• Published in: Genetic counseling Vol. 24; no. 1; pp. 1 - 5
• Main Authors: OCAK, By Z, YAZICIOGLU, H. F, AYGUN, M, ILTER, M. K. I, OZLU, T
• Format: Journal Article
• Language: English
• Published: Genève Médecine & hygiène 2013; Éditions Médecine et Hygiène
• Subjects: Abnormalities, Multiple - diagnosis; Adult; Agenesis of Corpus Callosum - diagnosis; Biological and medical sciences; Brain - pathology; Cesarean Section; Cleft Lip - diagnosis; Cleft Palate; Coloboma - diagnosis; Diagnosis, Differential; Echoencephalography - methods; Facial bones, jaws, teeth, parodontium: diseases, semeiology; Female; General aspects. Genetic counseling; Humans; Infant, Newborn; Lipoma - complications; Lipoma - diagnosis; Lipoma - diagnostic imaging; Magnetic Resonance Imaging - methods; Male; Medical genetics; Medical sciences; Nasal Polyps - diagnosis; Non tumoral diseases; Otorhinolaryngology. Stomatology; Pregnancy; Skin Diseases - diagnosis; Skin Neoplasms - complications; Skin Neoplasms - diagnostic imaging; Ultrasonography, Prenatal - methods; Sonography; Human; Cleft palate; Cleft lip; Pai syndrome; Stomatology; Congenital cleft; Congenital disease; Syndrome; Case study; Prenatal; Genetic counseling; Pericallosal lipoma; Malformation; Echography; Oral cavity disease; Adipose tissue disorders; Benign neoplasm; Detection; Lipoma; Prenatal ultrasound
• ISSN: 1015-8146

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.