title: Postnatal Diagnosis of a Baby With Multiple Rare Congenital Anomalies Including Syngnathia, Brain Dysmorphism, and Skin Pigmentation.
abstract: Syngnathia is a rare congenital disorder of jaw fusion with a paucity of literature from developed countries. We present a case of an infant noted to have multiple anomalies at birth including syngnathia, microcephaly with a variant of brain abnormality between holoprosencephaly and syntelencephaly, optic nerve hypoplasia, ear canal anomalies, hemi-vertebrae, and suspected hypomelanosis of Ito. To our knowledge, this patient with syngnathia and multiple anomalies is the first to be reported, but whether they are a coincidence, a pathogenetic association, or a new syndrome remains unknown. This case is discussed with a brief review of the literature.
authors.forename: Linda
authors.initials: L
authors.lastname: Mahgoub
authors.forename: Chloe
authors.initials: C
authors.lastname: Joynt
authors.forename: Ravi
authors.initials: R
authors.lastname: Bhargava
authors.forename: Dawn
authors.initials: D
authors.lastname: Davies
authors.forename: Hamdy
authors.initials: H
authors.lastname: El-Hakim
authors.forename: Walter
authors.initials: W
authors.lastname: Dobrovolsky
mesh_terms: D000015:Abnormalities, Multiple; D001921:Brain / Q000002:abnormalities* / Q000000981:diagnostic imaging; D004424:Ear Canal / Q000002:abnormalities / Q000000981:diagnostic imaging; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007569:Jaw Abnormalities / Q000000981:diagnostic imaging*; D008831:Microcephaly / Q000000981:diagnostic imaging; D009056:Mouth Abnormalities / Q000000981:diagnostic imaging*; D009900:Optic Nerve / Q000002:abnormalities / Q000000981:diagnostic imaging; D010859:Pigmentation Disorders / Q000151:congenital*; D013131:Spine / Q000002:abnormalities / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed
keywords: micrognathia; syngnathia; syntelencephaly