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Intrauterine growth retardation. A report of two cases with bird-headed appearance, skeletal changes and peripheral
Insights
This study reports two cases of severe intrauterine growth retardation with Seckel's syndrome features. Patients exhibited premature aging, growth hormone resistance, and distinct skeletal abnormalities, suggesting complex developmental issues.
Area of Science:
- Pediatrics
- Genetics
- Endocrinology
Background:
- Intrauterine growth retardation (IUGR) presents significant challenges in pediatric health.
- Seckel's syndrome is a rare genetic disorder characterized by intrauterine growth retardation and distinct physical features.
Observation:
- Two pediatric patients (male and female) with severe IUGR were studied over 7 and 10 years.
- Both exhibited cranio-facial abnormalities consistent with Seckel's syndrome, premature aging signs, and peripheral growth hormone (GH) resistance.
- Sella area and volume were at the upper limits of normal for height, with dysharmonic skeletal maturation including ivory cone-shaped epiphyses.
Findings:
- Peripheral GH resistance was likely linked to deficient Somatomedin A production.
- The observed features suggest a complex interplay of genetic and endocrine factors in these IUGR cases.
- Skeletal maturation abnormalities highlight potential long-term growth and development impacts.
Implications:
- These cases expand the understanding of Seckel's syndrome phenotypes.
- Further research into Somatomedin A production and GH resistance mechanisms in IUGR is warranted.
- Early identification and management strategies for similar complex pediatric growth disorders may be improved.
Abstract:
Two cases of severe intrauterine growth retardation, a boy and a girl studied for 7 and 10 years respectively, are reported. Both patients showed peculiar cranio-facial abnormalities as observed in the so-called Seckel's syndrome, an appearance of premature aging, peripheral GH resistance which was probably due to deficiency in Somatomedin A production, sella areas and volumes consistently at the upper limits of normal when related to the patients' height, and dysharmonic skeletal maturation ivory cone-shaped epiphyses of the tubular bones of the hands.