title: Schinzel-Giedion syndrome. A patient with hypothyroidism and diabetes insipidus.
abstract: The Schinzel-Giedion is an autosomal recessive syndrome characterized by midface retraction, hypertrichosis, multiple skeletal anomalies, cardiac and renal malformations and mental retardation. We describe a female child with this syndrome and a clinical status complicated by hypernatremic dehydration, hypothyroidism and diabetes insipidus at the age of 10 months.
authors.affiliation: Unidade de Genética, Hospital de Santa Maria, Universidade de Lisboa, Portugal.
authors.forename: H
authors.initials: H
authors.lastname: Santos
authors.forename: I
authors.initials: I
authors.lastname: Cordeiro
authors.forename: A
authors.initials: A
authors.lastname: Medeira
authors.forename: E
authors.initials: E
authors.lastname: Mendonça
authors.forename: N L
authors.initials: NL
authors.lastname: Antunes
authors.forename: F C
authors.initials: FC
authors.lastname: Rosa
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D001284:Atrophy; D001921:Brain / Q000473:pathology; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D003919:Diabetes Insipidus / Q000175:diagnosis / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D007037:Hypothyroidism / Q000175:diagnosis / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D008279:Magnetic Resonance Imaging; D010902:Pituitary Gland / Q000473:pathology; D013577:Syndrome