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

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

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  • 1Unidade de GenĂ©tica, Hospital de Santa Maria, Universidade de Lisboa, Portugal.

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.

PMID:
7917131
[PubMed - indexed for MEDLINE]
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