Facial morphometry of Ecuadorian patients with growth hormone receptor deficiency/Laron syndrome.
نویسندگان
چکیده
Facial morphometry using computerised image analysis was performed on patients with growth hormone receptor deficiency (Laron syndrome) from an inbred population of southern Ecuador. Morphometrics were compared for 49 patients, 70 unaffected relatives, and 14 unrelated persons. Patients with growth hormone receptor deficiency showed significant decreases in measures of vertical facial growth as compared to unaffected relatives and unrelated persons with short stature from other causes. This report validates and quantifies the clinical impression of foreshortened facies in growth hormone receptor deficiency.
منابع مشابه
An update on Laron syndrome.
Definition and epidemiology Laron syndrome is a hereditary disease where there is a primary resistance to growth hormone because of a polymorphic molecular defect in the growth hormone receptor. It is clinically and in many biochemical aspects undistinguishable from isolated growth hormone deficiency (IGHD), and is characterised by high circulating growth hormone concentrations and low serum IG...
متن کاملPrimary growth hormone insensitivity (Laron syndrome) and acquired hypothyroidism: a case report
INTRODUCTION Primary growth hormone resistance or growth hormone insensitivity syndrome, also known as Laron syndrome, is a hereditary disease caused by deletions or different types of mutations in the growth hormone receptor gene or by post-receptor defects. This disorder is characterized by a clinical appearance of severe growth hormone deficiency with high levels of circulating growth hormon...
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متن کاملA mammalian model for Laron syndrome produced by targeted disruption of the mouse growth hormone receptor/binding protein gene (the Laron mouse).
Laron syndrome [growth hormone (GH) insensitivity syndrome] is a hereditary dwarfism resulting from defects in the GH receptor (GHR) gene. GHR deficiency has not been reported in mammals other than humans. Many aspects of GHR dysfunction remain unknown because of ethical and practical limitations in studying humans. To create a mammalian model for this disease, we generated mice bearing a disru...
متن کاملGrowth hormone resistance: clinical states and animal models.
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عنوان ژورنال:
- Journal of medical genetics
دوره 31 8 شماره
صفحات -
تاریخ انتشار 1994