Oromandibular limb hypogenesis syndrome, type IIA, hypoglossia-hypodactylia: a case report. 2007

Puneet Wadhwani, and Shadab Mohammad, and Ruchi Sahu
Saraswati Dental College, Oral and Maxillofacial Surgery, Lucknow, Uttar Pradesh, India. drpuneetwadhwani@hotmail.com

A patient with oromandibular limb hypogenesis syndrome, type IIA hypoglossia-hypodactylia, is reported. The features essential for the diagnosis of this congenital defect include a reduction in tongue size (microglossia), micrognathic mandible and limb abnormalities of varying severity. Parents and the other sibling were normal. Past medical history for exposure of the mother to drugs during pregnancy was positive.

UI MeSH Term Description Entries
D008297 Male Males
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
D008844 Micrognathism Abnormally small jaw. Congenital Micrognathia,Congenital Micrognathism,Mandibular Micrognathia,Mandibular Micrognathism,Micrognathia,Congenital Micrognathias,Congenital Micrognathisms,Mandibular Micrognathias,Mandibular Micrognathisms,Micrognathia, Congenital,Micrognathia, Mandibular,Micrognathias,Micrognathias, Congenital,Micrognathias, Mandibular,Micrognathism, Congenital,Micrognathism, Mandibular,Micrognathisms,Micrognathisms, Congenital,Micrognathisms, Mandibular
D011247 Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. Gestation,Pregnancies
D011297 Prenatal Exposure Delayed Effects The consequences of exposing the FETUS in utero to certain factors, such as NUTRITION PHYSIOLOGICAL PHENOMENA; PHYSIOLOGICAL STRESS; DRUGS; RADIATION; and other physical or chemical factors. These consequences are observed later in the offspring after BIRTH. Delayed Effects, Prenatal Exposure,Late Effects, Prenatal Exposure
D005260 Female Females
D005334 Fever An abnormal elevation of body temperature, usually as a result of a pathologic process. Pyrexia,Fevers,Pyrexias
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
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths

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