Schinzel-Giedion syndrome. A patient with hypothyroidism and diabetes insipidus

H Santos; I Cordeiro; A Medeira; E Mendonça; N L Antunes; F C Rosa

Schinzel-Giedion syndrome. A patient with hypothyroidism and diabetes insipidus

Genet Couns. 1994;5(2):187-9.

Authors

H Santos¹, I Cordeiro, A Medeira, E Mendonça, N L Antunes, F C Rosa

Affiliation

¹ Unidade de Genética, Hospital de Santa Maria, Universidade de Lisboa, Portugal.

PMID: 7917131

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.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / diagnosis
Abnormalities, Multiple / genetics*
Atrophy
Brain / pathology
Chromosome Aberrations / genetics*
Chromosome Disorders
Diabetes Insipidus / diagnosis
Diabetes Insipidus / genetics*
Facial Bones / abnormalities*
Female
Genes, Recessive / genetics*
Humans
Hypothyroidism / diagnosis
Hypothyroidism / genetics*
Infant
Infant, Newborn
Intellectual Disability / diagnosis
Intellectual Disability / genetics
Magnetic Resonance Imaging
Pituitary Gland / pathology
Syndrome