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A patient with chromosome 18p deletion and congenital hypoglossia. 2018

Sanne Klaphake, and Marieke F van Dooren, and Richelle E M Senden, and A Jeannette M Hoogeboom, and Eppo B Wolvius, and Maarten J Koudstaal
Department of Oral and Maxillofacial Surgery, University Medical Center.

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D007621 Karyotyping Mapping of the KARYOTYPE of a cell. Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D002872 Chromosome Deletion Actual loss of portion of a chromosome. Monosomy, Partial,Partial Monosomy,Deletion, Chromosome,Deletions, Chromosome,Monosomies, Partial,Partial Monosomies
D002887 Chromosomes, Human, Pair 18 A specific pair of GROUP E CHROMOSOMES of the human chromosome classification. Chromosome 18
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
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
D016142 Holoprosencephaly Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage. Alobar prosencephaly is the most severe form and features anophthalmia; cyclopia; severe INTELLECTUAL DISABILITY; CLEFT LIP; CLEFT PALATE; SEIZURES; and microcephaly. Semilobar holoprosencepaly is characterized by hypotelorism, microphthalmia, coloboma, nasal malformations, and variable degrees of INTELLECTUAL DISABILITY. Lobar holoprosencephaly is associated with mild (or absent) facial malformations and intellectual abilities that range from mild INTELLECTUAL DISABILITY to normal. Holoprosencephaly is associated with CHROMOSOME ABNORMALITIES. Alobar Holoprosencephaly,Arhinencephaly,Lobar Holoprosencephaly,Semilobar Holoprosencephaly,Holoprosencephaly, Familial Alobar,Alobar Holoprosencephalies,Arhinencephalies,Holoprosencephalies,Holoprosencephalies, Alobar,Holoprosencephalies, Lobar,Holoprosencephalies, Semilobar,Holoprosencephaly, Alobar,Holoprosencephaly, Lobar,Holoprosencephaly, Semilobar,Lobar Holoprosencephalies,Semilobar Holoprosencephalies
D018640 Stomatognathic System Abnormalities Congenital structural abnormalities of the mouth and jaws, including the dentition. Abnormalities, Stomatognathic System,Abnormality, Stomatognathic System,Stomatognathic System Abnormality

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Progressive dystonia in a child with chromosome 18p deletion, treated with intrathecal baclofen.
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