Etiology of Failure to Thrive in Infants and Toddlers Referred to a Pediatric Endocrinology Outpatient Clinic

Daniel, Maala S.; Kleis, Lora; Cemeroğlu, Ayşe Pínar

doi:10.1177/0009922808316989

Cited by 52 publications

(39 citation statements)

References 7 publications

(27 reference statements)

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“…In humans, disorders of growth are common reasons for referral to pediatric endocrinology because the hormonal axis plays a critical role in controlling growth (Daniel et al 2008). However, many syndromes are known to cause severely stunted growth despite a normal hormonal axis, the most notable of which are skeletal dysplasias, although these represent a selective defect in bony growth.…”

Section: [Supplemental Materials Is Available For This Article]mentioning

confidence: 99%

Genomic analysis of primordial dwarfism reveals novel disease genes

et al. 2014

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Primordial dwarfism (PD) is a disease in which severely impaired fetal growth persists throughout postnatal development and results in stunted adult size. The condition is highly heterogeneous clinically, but the use of certain phenotypic aspects such as head circumference and facial appearance has proven helpful in defining clinical subgroups. In this study, we present the results of clinical and genomic characterization of 16 new patients in whom a broad definition of PD was used (e.g., 3M syndrome was included). We report a novel PD syndrome with distinct facies in two unrelated patients, each with a different homozygous truncating mutation in CRIPT. Our analysis also reveals, in addition to mutations in known PD disease genes, the first instance of biallelic truncating BRCA2 mutation causing PD with normal bone marrow analysis. In addition, we have identified a novel locus for Seckel syndrome based on a consanguineous multiplex family and identified a homozygous truncating mutation in DNA2 as the likely cause. An additional novel PD disease candidate gene XRCC4 was identified by autozygome/exome analysis, and the knockout mouse phenotype is highly compatible with PD. Thus, we add a number of novel genes to the growing list of PD-linked genes, including one which we show to be linked to a novel PD syndrome with a distinct facial appearance. PD is extremely heterogeneous genetically and clinically, and genomic tools are often required to reach a molecular diagnosis.

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Section: [Supplemental Materials Is Available For This Article]mentioning

confidence: 99%

Genomic analysis of primordial dwarfism reveals novel disease genes

et al. 2014

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“…FTT is seen in 5%-10% of children in primary care settings and in 3%-5% of children in hospital settings in the United States. (8,9) …”

Section: How Common Is This In My Practice?mentioning

confidence: 99%

Failure to thrive in babies and toddlers

Goh¹,

How²,

Ng³

2015

smedj

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“…However, some patients classified as having ISS may exhibit conditions that are not detected by the conventional workup. ISS accounts for 0.9-60% of all cases of short stature, depending on the country (percentage of malnutrition) or the population of the study (whole population or subgroup of small children) (3,4,5,6,7,8,9,10,11). To date, only three studies have routinely investigated patients with ISS for skeletal dysplasia (SD), which was found in 2.3 (9), 5.6 (3), and 11.4% (11) of cases respectively.…”

Section: Introductionmentioning

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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Etiology of Failure to Thrive in Infants and Toddlers Referred to a Pediatric Endocrinology Outpatient Clinic

Cited by 52 publications

References 7 publications

Genomic analysis of primordial dwarfism reveals novel disease genes

Genomic analysis of primordial dwarfism reveals novel disease genes

Failure to thrive in babies and toddlers

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

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