Failure to Thrive: Current Clinical Concepts

Jaffe, Arthur C.

doi:10.1542/pir.32-3-100

Cited by 70 publications

(73 citation statements)

References 15 publications

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“…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. On the other hand, generalized growth deficiency states that are nonhormonal in etiology and are not related to a negative caloric balance offer a unique opportunity to explore factors that control organismal growth at a more fundamental level and are likely to contribute to the ;90% of failure-to-thrive children in whom no specific etiology is identified (Jaffe 2011). Severe failure to thrive is commonly associated with a wide array of chromosomal aberrations, which attests to a role played by the genes in growth control, but assigning such a role to individual genes is not usually possible due to the nature of these chromosomal aberrations.…”

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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“…There is an organic explanation for a small minority. Non-organic failure to thrive brings with it an increased risk of physical illness, continued growth retardation as well as cognitive and emotional disturbances (Jaffe, 2011;Jolley, 2003).…”

Section: Failure To Thrive Syndromementioning

confidence: 99%

“…Nonorganic Failure to Thrive (NOFTT) is the most common cause of FTT and refers to situations where the infant is unable to receive enough food because of economic reasons, parental neglect or psychosocial problems (Jaffe, 2011;Krugman & Dubowitz, 2003;Şahin, 2002).…”

Section: Failure To Thrive Syndromementioning

confidence: 99%

Breastfeeding After a Cesarean Delivery

Kuğuoğlu¹,

Yıldız²,

Tanir³

et al. 2012

Cesarean Delivery

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“…F ailure to thrive (FTT) occurs when a child's rate of weight gain is below expectations based on age-and sex-specific growth charts (1). Although data regarding the prevalence of FTT in the United States are lacking, a 2006 Danish cohort study demonstrated a prevalence of 1.2% to 22.2% depending on the diagnostic criteria used (2).…”

mentioning

confidence: 99%

“…It has been suggested that the terms organic and nonorganic FTT be abandoned (1). Although many children may have both organic and nonorganic factors that contribute to their FTT, determining the primary etiology guides treatment for FTT.…”

mentioning

confidence: 99%