A new phenotypical variant of intrauterine growth restriction?
OBJECTIVE
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.


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.
DeFelice
Claudio
C
Neonatal Intensive Care Unit, Division of Neonatology, Azienda Ospedaliera Universitaria Senese Le Scotte Hospital, Viale M. Bracci 16, 53100 Siena, Italy. defelice.claudio@libero.it
Tassi
Rossana
R
De Capua
Bruno
B
Jaubert
Francis
F
Gentile
Mattia
M
Quartulli
Lorenzo
L
Tonni
Gabriele
G
Costantini
Daniele
D
Strambi
Mirella
M
Latini
Giuseppe
G
D000328:Adult; D016022:Case-Control Studies; D002648:Child; D002657:Child Development / Q000502:physiology*; D002941:Circle of Willis / Q000000981:diagnostic imaging / Q000196:embryology; D015331:Cohort Studies; D004431:Ear, External / Q000196:embryology; D007758:Ear, Inner / Q000196:embryology; D005072:Evoked Potentials, Auditory / Q000235:genetics*; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007236:Infant, Small for Gestational Age; D007558:Italy; D007593:Joint Instability / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D011247:Pregnancy; D011336:Probability; D012016:Reference Values; D012307:Risk Factors; D012737:Sex Factors; D018709:Statistics, Nonparametric; D018615:Ultrasonography, Doppler, Color