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Published on: June 29, 2013
A new phenotypical variant of intrauterine growth restriction?
Claudio DeFelice1, Rossana Tassi, Bruno De Capua
1Neonatal Intensive Care Unit, Division of Neonatology, Azienda Ospedaliera Universitaria Senese Le Scotte Hospital, Viale M. Bracci 16, 53100 Siena, Italy. defelice.claudio@libero.it
Insights
This study identified a distinct variant of intrauterine growth restriction (IUGR) in children, characterized by specific ear morphology and vascular differences. These findings suggest a previously unrecognized clinical presentation of IUGR with potential long-term health implications.
Area of Science:
- Pediatric Endocrinology
- Developmental Biology
- Genetics
Background:
- Intrauterine growth restriction (IUGR) is linked to adult-onset diseases.
- Unrecognized clinical features in children with IUGR require investigation.
Purpose of the Study:
- To identify and characterize novel clinical features in children with IUGR.
- To investigate potential phenotypical variants of IUGR.
Main Methods:
- Examined 77 Italian children with antenatally diagnosed IUGR and small-for-gestational-age birth.
- Subdivided children into "variant" and control groups based on auricle morphology.
- Assessed ear geometry, posterior communicating artery function, joint mobility, skin softness, and otoacoustic emissions.
Main Results:
- IUGR-variant children showed female predominance and different head circumference compared to controls.
- Mothers of IUGR-variant children had distinct auricular geometry.
- Excess nonfunctioning posterior communicating arteries and increased joint hypermobility/skin softness were noted in IUGR-variant children and their mothers.
- Distortion product-evoked otoacoustic emissions notches were observed in IUGR-variant individuals and their mothers.
Conclusions:
- The observed constellation of phenotypical features suggests an unrecognized variant of intrauterine growth restriction.
- This variant may have distinct underlying mechanisms and clinical implications.
Objectives:
A link between intrauterine growth restriction and major adult-onset diseases has been reported. In this study we observed a series of hitherto-unrecognized clinical features in a population of children with intrauterine growth restriction.
Patients And Methods:
A total of 77 Italian children (aged 9.45 +/- 2.08 years) with antenatally diagnosed intrauterine growth restriction and small-for-gestational-age birth, along with their parents, were examined. The children with intrauterine growth restriction and were small for gestational age were subdivided into 2 groups ("variant" versus control subjects) according to evidence of auricle morphology deviation from normal. The following variables were determined: (1) external ear auricle geometry; (2) function of the posterior communicating arteries of the circle of Willis, as assessed by transcranial Doppler ultrasonography; (3) articular mobility, as assessed by Beighton's 9-point scale; (4) skin softness; and (5) distortion product-evoked otoacoustic emissions.
Results:
Intrauterine growth restriction-variant children (n = 27) showed a significant female predominance, a lower proportion of maternal pregnancy-induced hypertension/preeclampsia, and a higher head circumference as compared with intrauterine growth restriction control subjects. Mothers of small-for-gestational-age-variant children showed significantly different auricular geometry parameters as compared with the intrauterine growth restriction controls mothers. An excess of bilaterally nonfunctioning posterior communicating arteries was observed both in the children with the intrauterine growth restriction-variant phenotype and their mothers as compared with the control groups. Significantly increased proportions of joint hypermobility and skin softness were observed in the intrauterine growth restriction-variant children as compared with controls subjects. Children with the intrauterine growth restriction-variant phenotype and their mothers showed bilateral distortion product-evoked otoacoustic emissions notches versus none in the control subjects, with an associated reduction of the area under the curve in both the intrauterine growth restriction-variant children and their mothers. No significant differences between the variant and control groups regarding the fathers were observed.
Conclusions:
We propose that the observed phenotypical constellation may represent an unrecognized variant of intrauterine growth restriction.
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