title: Microcephaly, dysmorphic features, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds, and small cerebellum in four patients.
abstract: Pontocerebellar hypoplasia (PCH) can occur as an isolated entity or part of a syndrome. PCH has been reported with facial dysmorphism, ocular anomalies, and genital anomalies, but the co-occurrence of all four has not been previously described. We report on four patients, born to two consanguineous families that are not related to one another, with distinctive facial features (short forehead, laterally extended, medially flared eyebrows), corneal dystrophy, underdevelopment of labioscrotal folds, and nonprogressive PCH. In addition, the patients show hair extruding from the lactiferous ducts, which to our knowledge has not been described before. The parental consanguinity, affected siblings of both genders, and absent manifestations in parents, indicate an autosomal recessive pattern of inheritance as most likely. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.|Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
authors.forename: Hülya
authors.initials: H
authors.lastname: Kayserili
authors.affiliation: Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
authors.forename: Umut
authors.initials: U
authors.lastname: Altunoglu
authors.affiliation: Department of Genetics, Bezmialem Vakıf University, School of Medicine, Istanbul, Turkey.
authors.forename: Gozde
authors.initials: G
authors.lastname: Yesil
authors.affiliation: Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.|Department of Neurosciences, Laboratory for Pediatric Brain Diseases, University of California San Diego, La Jolla, California.
authors.forename: Rasim Özgür
authors.initials: RÖ
authors.lastname: Rosti
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000378:metabolism; D015415:Biomarkers; D001921:Brain / Q000002:abnormalities; D002531:Cerebellum / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D003317:Corneal Dystrophies, Hereditary / Q000175:diagnosis*; D002658:Developmental Disabilities / Q000175:diagnosis; D003952:Diagnostic Imaging; D019066:Facies; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D008297:Male; D008831:Microcephaly / Q000175:diagnosis*; D009421:Nervous System Malformations / Q000175:diagnosis*; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome
chemical_list: D015415:Biomarkers
keywords: corneal dystrophy; hairy nipples; pontocerebellar hypoplasia; scrotal/labial aplasia; underdeveloped labioscrotal folds