Syngnathia in Spectrum of Oromandibular Limb Hypogenesis Syndrome. 2020

Geiza Máximo, and Mayara Branco Silva, and Maria Ângela R G M Antonio, and Thais Miguel do Monte, and Cesar Augusto Raposo-Amaral, and Cassio Eduardo Raposo-Amaral
Institute of Plastic and Craniofacial Surgery, SOBRAPAR Hospital, Campinas.

Syngnathia is a rare facial anomaly associated with neonatal problems, including a compromised airway, and the inability to take in solids and/or liquids. Syngnathia is included within the spectrum of oromandibular limb hypogenesis syndrome, an extremely rare condition characterized by varying degrees of congenital malformation involving the tongue, mandible, and limbs. In this report, we describe the case of a 41-day-old Caucasian female infant who was unable to open her mouth beginning at birth. The authors performed osteotomies to separate fused bone, and placed a bite block at the osteotomy sites to prevent bone fusion recurrence. At 2 years of follow-up patient remained with 14 mm of mouth opening.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D007569 Jaw Abnormalities Congenital absence of or defects in structures of the jaw. Abnormalities, Jaw,Abnormality, Jaw,Jaw Abnormality
D008334 Mandible The largest and strongest bone of the FACE constituting the lower jaw. It supports the lower teeth. Mylohyoid Groove,Mylohyoid Ridge,Groove, Mylohyoid,Grooves, Mylohyoid,Mandibles,Mylohyoid Grooves,Mylohyoid Ridges,Ridge, Mylohyoid,Ridges, Mylohyoid
D009056 Mouth Abnormalities Congenital absence of or defects in structures of the mouth. Abnormalities, Mouth,Abnormality, Mouth,Mouth Abnormality
D010027 Osteotomy The surgical cutting of a bone. (Dorland, 28th ed) Osteotomies
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000015 Abnormalities, Multiple Congenital abnormalities that affect more than one organ or body structure. Multiple Abnormalities
D014059 Tongue A muscular organ in the mouth that is covered with pink tissue called mucosa, tiny bumps called papillae, and thousands of taste buds. The tongue is anchored to the mouth and is vital for chewing, swallowing, and for speech. Tongues

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