Diagnosis of hypochondroplasia: the role of radiological interpretation

Prinster, Chiara; Maschio, Maurizia Del; Beluffi, Giampiero; Maghnie, Mohamad; Weber, Giovanna; Maschio, Alessandro Del; Chiumello, G; Mora, Stefano

doi:10.1007/s002470000398

Cited by 18 publications

(9 citation statements)

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“…Clinical Study I Flechtner and others Impact of skeletal dysplasia on growth ossification; and the pelvis for iliac wings, shortness of the femoral necks, and metaphyseal and epiphyseal anomalies (21,32,33,34). All radiographs were read by a panel of specialists including geneticists from the French reference center for skeletal dysplasia, radiologists, and pediatric endocrinologists.…”

Section: European Journal Of Endocrinologymentioning

confidence: 99%

Unexpected high frequency of skeletal dysplasia in idiopathic short stature and small for gestational age patients

Flechtner

Lambot-Juhan

Teissier

et al. 2014

European Journal of Endocrinology

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Objective: To assess the prevalence of skeletal dysplasias (SDs) in patients with idiopathic short stature (ISS) or small for gestational age (SGA) status. Setting: Rare Endocrine/Growth Diseases Center in Paris, France. Design: A prospective study on consecutive patients with ISS and SGA enrolled from 2004 to 2009. Method: We used a standardized workup to classify patients into well-established diagnostic categories. Of 713 patients with ISS (nZ417) or SGA status (nZ296), 50.9% underwent a skeletal survey. We chose patients labeled normal or with a prepubertal slowdown of growth as a comparison group. Results: Diagnoses were ISS (16.9%), SGA (13.5%), normal growth (24.5%), transient growth rate slowing (17.3%), endocrine dysfunction (12%), genetic syndrome (8.9%), chronic disease (5.1%), and known SD (1.8%). SD was found in 20.9% of SGA and 21.8% ISS patients and in only 13.2% in our comparison group. SD prevalence was significantly higher in the ISS group than in the comparison group, especially (50%) for patients having at least one parent whose height was !K2 SDS. Dyschondrosteosis and hypochondroplasia were the most frequently identified SD, and genetic anomaly was found in 61.5 and 30% respectively. Subtle SD was found equally in the three groups and require long-term growth follow-up to evaluate the impact on final height. Conclusion: SD may explain more than 20% of cases of growth retardation ascribed to ISS or SGA, and this proportion is higher when parental height is !K2 SDS. A skeletal survey should be obtained in patients with delayed growth in a context of ISS or SGA.

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Section: European Journal Of Endocrinologymentioning

confidence: 99%

Unexpected high frequency of skeletal dysplasia in idiopathic short stature and small for gestational age patients

Flechtner

Lambot-Juhan

Teissier

et al. 2014

European Journal of Endocrinology

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“…Clinical severity in HCH has been attributed to having the FGFR3 mutation [Rousseau et al, 1996]. Such phenotypic and genotypic heterogeneity complicates the diagnosis of HCH [Prinster et al, 2001]. Such heterogeneity prompted us to investigate other genetic mutations in the causation of the HCH phenotype.…”

Section: Introductionmentioning

confidence: 98%

New proposed clinico‐radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia

Song

Balce

Agashe

et al. 2012

American J of Med Genetics Pt A

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We applied a comprehensive set of clinical and radiological criteria for the diagnosis of hypochondroplasia (HCH) in 160 patients with short stature 58 of whom were diagnosed to have HCH. Taking into account the genotypic and phenotypic variations in HCH, we conducted a study with these 58 patients and tested them for mutations in the fibroblast growth factor receptor 3 (FGFR3) and the short stature homeobox (SHOX) gene. We characterized the phenotypes by clinical and radiologic findings. In the patients with HCH, 19 were included in Group I (FGFR3 mutations-mutations of definite significance), and 39 were in Group II (6 SHOX mutations and 33 negative for disease-causing FGFR3 mutations). The clinical findings were similar in two groups regardless of the presence or absence of mutations. More than 95% of the patients had mesomelic proportions. In Group I, the radiological findings of mesomelia of upper and lower limbs and, L1/L4 ratio in anterior-posterior and lateral view were more typical than in Group II. This study proposes comprehensive clinico-radiological criteria for the diagnosis of HCH, which would help in detecting the true incidence of this underdiagnosed condition. The presence of SHOX mutations suggest genotypic-phenotypic overlap between HCH and Leri-Weill dyschondrosteosis, though further investigation is needed to effectively elucidate the importance of these mutations. Also, the 56.9% of HCH patients with negative mutations for FGFR3 suggests that there are other undiscovered gene mutations associated with this phenotypic entity.

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“…The variable and mild manifestations of hypochondroplasia make it difficult to establish a precise diagnosis of the disorder on clinical grounds prior to and even after birth (Hall and Spranger, 1979;Lachman, 1996;Prinster et al, 2001). Jones et al reported a sporadic patient who was prenatally suspected as having a shortlimb skeletal dysplasia and was diagnosed as hypochondroplastic one year after birth (Jones et al, 1990).…”

Section: Introductionmentioning

confidence: 99%

Radiographic and genetic diagnosis of sporadic hypochondroplasia early in the neonatal period

et al. 2004

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Hypochondroplasia is an autosomal dominant skeletal dysplasia expressing postnatal onset of short stature with mild rhizomelic shortening of the limbs. This manifestation leads to restricted prenatal diagnosis of the disorder. We report here on a sporadic case of a hypochondroplastic baby, whose prenatal sonographic measurements were serially recorded from 19 weeks of gestation. Mild shortening of the limbs became manifest after 26 weeks of gestation. Biparietal diameter was within the normal range throughout gestation. Both parents were of average stature. A tentative diagnosis of a nonlethal short-limb skeletal dysplasia was made. At birth, the clinical manifestations of the neonate were not characteristic, but the radiographic features raised the possibility of hypochondroplasia. Molecular analyses revealed a C to G mutation at nucleotide 1659 of the fibroblast growth factor receptor 3 (FGFR3) gene, a common mutation in hypochondroplasia.

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Diagnosis of hypochondroplasia: the role of radiological interpretation

Cited by 18 publications

References 0 publications

Unexpected high frequency of skeletal dysplasia in idiopathic short stature and small for gestational age patients

Unexpected high frequency of skeletal dysplasia in idiopathic short stature and small for gestational age patients

New proposed clinico‐radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia

Radiographic and genetic diagnosis of sporadic hypochondroplasia early in the neonatal period

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