Related Experiment Video
Updated: May 9, 2026
Modeling Encephalopathy of Prematurity Using Prenatal Hypoxia-ischemia with Intra-amniotic Lipopolysaccharide in Rats
Published on: November 20, 2015
Bloom syndrome in short children born small for gestational age: a challenging diagnosis
Judith S Renes1, Ruben H Willemsen, Anja Wagner
1MD, Erasmus Medical Center/Sophia Children's Hospital, Dr Molewaterplein 60, Room Sb-2603, 3015 GJ Rotterdam, The Netherlands. j.renes@erasmusmc.nl.
Insights
Bloom syndrome, a rare chromosomal breakage disorder, can present atypically in children with short stature after small for gestational age birth. Early testing is recommended for children with specific features, especially during growth hormone (GH) therapy.
Area of Science:
- Pediatric Endocrinology
- Genetics and Genomics
- Rare Diseases
Background:
- Growth hormone (GH) therapy is common for short children born small for gestational age (SGA).
- Certain genetic disorders, like chromosomal breakage syndromes, contraindicate GH treatment.
- Bloom syndrome is a rare chromosomal breakage syndrome with severe growth deficiency, photosensitive rash, immunodeficiency, and cancer predisposition.
Observation:
- Two patients with Bloom syndrome presented with short stature post-SGA birth and were treated with GH.
- Clinical manifestations varied, with minimal photosensitive skin lesions appearing at puberty.
- Both patients initially showed normal development, immunoglobulin levels, and no endocrinopathies, but had features resembling Silver-Russell syndrome.
Findings:
- During GH treatment, both patients exhibited elevated Insulin-like Growth Factor 1 (IGF-1) levels ( > 3.5 SD score) with normal IGF binding protein-3.
- These findings highlight atypical presentations of Bloom syndrome in short children born SGA.
Implications:
- Bloom syndrome should be considered in short children born SGA, particularly those with consanguineous parents.
- Dysmorphic features (especially Silver-Russell syndrome-like), skin abnormalities, or elevated IGF-1 during GH therapy warrant further investigation for Bloom syndrome.
- Accurate diagnosis is crucial for appropriate management and avoiding contraindications in rare genetic disorders.
Background:
GH treatment has become a frequently applied growth-promoting therapy in short children born small for gestational age (SGA). In some disorders GH treatment is contraindicated, eg, chromosomal breakage syndromes. Bloom syndrome is a rare chromosomal breakage syndrome characterized by severe pre- and postnatal growth deficiency, a photosensitive facial erythema, immunodeficiency, mental retardation or learning disabilities, endocrinopathies, and a predisposition to develop a wide variety of cancers.
Objective:
We report 2 patients with Bloom syndrome illustrating the variety in clinical manifestations. They were initially diagnosed with short stature after SGA birth and Silver Russell syndrome and treated with GH.
Cases:
Both patients presented with pre- and postnatal growth failure but no clear other characteristic features associated with Bloom syndrome. Photosensitive skin lesions developed only at a pubertal age and were minimal. Also, both children showed normal immunoglobulin levels, normal development, and no signs of endocrinopathies at start of GH. Dysmorphic features resembling Silver Russell syndrome were observed in both patients. Remarkably, during GH treatment IGF-1 levels increased to values greater than 3.5 SD score, with normal IGF binding protein-3 levels.
Conclusion:
Short children born SGA comprise a heterogeneous group. Bloom syndrome should be tested for in children with consanguineous parents, dysmorphic features (particularly resembling Silver Russell syndrome), skin abnormalities, and/or IGF-1 levels greater than 2.5 SD score during standard GH treatment with normal IGF binding protein-3 levels.
Related Concept Videos
01:10Nature and Nurture
01:23Pharmacokinetics in Pediatric Patients: Overview and Drug Absorption
01:20Inborn Errors of Metabolism
01:20Pathophysiology of Diabetes
Type 1 diabetes is characterized by autoimmune-mediated destruction of pancreatic β cells, with environmental factors potentially triggering this process in genetically susceptible individuals. Despite many not having a family history, certain genes increase susceptibility, suggesting a...
01:27Glucose Transporters
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
01:19Autism Spectrum Disorder
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.