Schinzel-Giedion syndrome. A patient with hypothyroidism and diabetes insipidus.
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.
Santos
H
H
Unidade de Genética, Hospital de Santa Maria, Universidade de Lisboa, Portugal.
Cordeiro
I
I
Medeira
A
A
Mendonça
E
E
Antunes
N L
NL
Rosa
F C
FC
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