title: Bilateral renal hypoplasia and cystic dysplasia: a new phenotype of Thomas syndrome or a new syndrome?
abstract: Thomas syndrome is a rare syndrome including Potter sequence, renal anomalies, heart defects, cleft palate with other oropharyngeal anomalies. Here, we report a newborn with Potter sequence, bilateral renal hypoplasia and cystic dysplasia, multiple cardiovascular malformations, long large ears, frontal bossing, small lips, partial simple toe syndactyly, and cleft palate. To our best knowledge, this patient may be considered as a new variant of Thomas syndrome or a new syndrome.
authors.affiliation: Department of Pediatrics, GATA Haydarpasa Teaching Hospital, Istanbul, Turkey.
authors.forename: Halit
authors.initials: H
authors.lastname: Ozkaya
authors.forename: Abdullah Bariş
authors.initials: AB
authors.lastname: Akcan
authors.forename: Gökhan
authors.initials: G
authors.lastname: Aydemir
authors.forename: Seçil
authors.initials: S
authors.lastname: Aydınöz
authors.forename: Mustafa
authors.initials: M
authors.lastname: Kul
authors.forename: Ferhan
authors.initials: F
authors.lastname: Karademir
authors.forename: Selami
authors.initials: S
authors.lastname: Süleymanoğlu
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002971:Cleft Lip / Q000175:diagnosis / Q000235:genetics*; D003937:Diagnosis, Differential; D004452:Echocardiography; D005260:Female; D005500:Follow-Up Studies; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities; D007674:Kidney Diseases / Q000151:congenital / Q000175:diagnosis*; D010159:Palate / Q000002:abnormalities; D010641:Phenotype; D014057:Tomography, X-Ray Computed