Primordial dwarfism (PD) refers to a group of monogenic genetic disorders characterized by intrauterine growth restriction (IUGR) and severe, persistent postnatal growth retardation. These diseases have been associated with variants of multiple genes whose products are mainly involved in critical cellular biological processes such as maintenance of genomic stability, DNA damage repair, mRNA splicing regulation, and centrosome function. Variants of such genes can directly impair cell proliferation and developmental potential. With the widespread application of molecular genetic technologies such as high-throughput sequencing, significant progress has been made in the research of PD. This article focuses on the major subtypes of PD, including Seckel syndrome, Microcephalic osteodysplastic primordial dwarfism (MOPD) types I/III, MOPD type II, and Meier-Gorlin syndrome. It has systematically summarized the advances in their clinical phenotypic characteristics, pathogenic genes, and molecular mechanisms, with an aim to deepen the understanding of the essence of growth disorders associated with PD.
Humans ; Dwarfism/genetics* ; Microcephaly/genetics* ; Phenotype ; Fetal Growth Retardation/genetics* ; Osteochondrodysplasias/genetics* ; Growth Disorders ; Micrognathism ; Patella/abnormalities* ; Congenital Microtia

BACKGROUND

Stunting remains a major public health issue in Indonesia, particularly in regions like Pandeglang Regency, where prevalence rates are high. Understanding the contributing factors is essential for targeted interventions.

OBJECTIVE

This study aimed to analyze factors associated with stunting among toddlers using a mixed-methods approach.

METHODS

A cross-sectional mixed-methods study was conducted in two health centers in Banten Province from December 2021 to January 2022. Quantitative data were collected using a structured questionnaire and analyzed using chi-square tests (pRESULTS

There is a relationship between maternal knowledge, history of exclusive breastfeeding, history of supplementary feeding, support from health workers, and socio-economic status with the prevalence of stunting. However, the pattern of exclusive breastfeeding and seeking health services in the working areas of Bangkonol Health Center and Kaduhejo Health Center, Pandeglang Regency, is not good enough and needs to be improved. Health workers need to educate mothers with toddlers about patterns of providing complementary feeding, food preparation, and storage, and basic health practices to prevent stunting.

RESULTS

There is a relationship between maternal knowledge, history of exclusive breastfeeding, history of supplementary feeding, support from health workers, and socio-economic status with the prevalence of stunting. However, the pattern of exclusive breastfeeding and seeking health services in the working areas of Bangkonol Health Center and Kaduhejo Health Center, Pandeglang Regency, is not good enough and needs to be improved. Health workers need to educate mothers with toddlers about patterns of providing complementary feeding, food preparation, and storage, and basic health practices to prevent stunting.

Human ; Infant: 1-23 Months ; Child Preschool: 2-5 Yrs Old ; Public Health ; Prevalence ; Methods ; Indonesia ; Health ; Growth Disorders ; Comprehension

Patients with Noonan syndrome (NS) are born with normal or slightly lower body length and weight compared to the normal ranges. However, their height gradually falls behind that of the general population, leading to growth retardation and delayed puberty. In China, the incidence of short stature in patients with NS is approximately 65%. Short stature in these patients arises from multiple causes, including feeding difficulties in infancy, comorbidities such as congenital heart disease, genetic heterogeneity, and disorders of the growth hormone/insulin-like growth factor-1 axis. Growth hormone is commonly used to alleviate symptoms of short stature. This article reviews the growth and development patterns at different stages of NS, analyzes the causes of short stature, and summarizes the latest advances in treatment to provide new insights for the diagnosis and management of short stature in patients with NS.
Noonan Syndrome/complications* ; Humans ; Body Height ; Growth Disorders/therapy*

Growth disorders are one of the common complications of chronic kidney disease (CKD) in children, adversely affecting both the quality of life and survival time of CKD patients. Recombinant human growth hormone (rhGH) is an effective treatment for growth disorders in children with CKD. This article reviews the mechanisms underlying growth disorders in children with CKD, the therapeutic effects, safety, and precautions of rhGH, and long-term management of diagnosis and treatment of this disorder.
Humans ; Human Growth Hormone/adverse effects* ; Child ; Recombinant Proteins/adverse effects* ; Renal Insufficiency, Chronic/complications* ; Growth Disorders/etiology*

Transfusion-dependent thalassemia (TDT) is a severe genetic chronic hemolytic disease, and growth retardation is a common clinical feature in patients with TDT. Due to the need for regular blood transfusions, these patients often experience iron overload, which leads to various endocrine dysfunctions, including abnormalities in the growth hormone/insulin-like growth factor axis, hypothyroidism, hypoparathyroidism, hypogonadism, adrenal insufficiency, and decreased bone density. This paper reviews the clinical monitoring and intervention measures for growth disorders and related endocrine functions in patients with TDT, providing references for clinicians.
Humans ; Thalassemia/physiopathology* ; Child ; Growth Disorders/diagnosis* ; Blood Transfusion ; Endocrine System Diseases/therapy*

A 7-year-old girl was admitted to the hospital with rapidly progressive vision loss. Since 1 year of age, she had exhibited developmental delay accompanied by visual impairment and neutropenia. Combined with genetic testing and molecular pathogenicity analysis, she was diagnosed with Cohen syndrome (CS) caused by compound heterozygous variants in VPS13B (c.6940+1G>T and c.2911C>T). The c.6940+1G>T variant resulted in exon 38 skipping, leading to a frameshift and premature termination. Reverse transcription quantitative polymerase chain reaction revealed significantly reduced VPS13B gene expression (P<0.05). Bioinformatic analysis suggested that both variants likely produce truncated proteins. This case highlights that integrating clinical features with molecular pathogenicity assessment (DNA, RNA, and protein analysis) can improve early diagnostic accuracy for CS.
Humans ; Female ; Child ; Vesicular Transport Proteins/genetics* ; Developmental Disabilities/etiology* ; Muscle Hypotonia/etiology* ; Myopia/etiology* ; Heterozygote ; Intellectual Disability/etiology* ; Microcephaly/etiology* ; Obesity/genetics* ; Growth Disorders/etiology* ; Retinal Degeneration/genetics* ; Psychomotor Disorders/genetics* ; Fingers/abnormalities*

OBJECTIVE: To explore the clinical phenotypes and genetic characteristics of a child with Acid-labile subunit deficiency (ALS). METHODS: A male child diagnosed with ALS at Dongguan Maternal and Child Health Care Hospital in March 2021 was selected as the study subject. Clinical data of his family was collected. Peripheral blood samples were collected from the child and his parents. Following extraction of genomic DNA, whole-exome sequencing (WES) was carried out, and Sanger sequencing was used for family verification of candidate variants. Based on guidelines from the American College of Medical Genetics and Genomics (ACMG), the pathogenicity of the candidate variant was classified. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: 2020-6). RESULTS: The patient, a 5-year-and-7-month-old boy, presented with short stature and delayed bone age. Endocrine examinations showed decreased serum concentrations of insulin-like growth factor-1 (IGF-1) and IGF binding protein-3 (IGFBP3). WES revealed that he has harbored compound heterozygous variants of the IGFALS gene, namely c.741_742del, p.Y248Pfs83 and c.272del, p.P91Rfs31. Sanger sequencing verified that the variants were inherited from his father and mother, respectively. According to the ACMG guidelines, c.741_742del, p.Y248Pfs83 and c.272del, p.P91Rfs31 variants were classified as likely pathogenic (PVS1+PM2_supporting). Based on the pre-set literature search strategy, 11 research literature on ALS were retrieved, which involved a total of 33 families and 62 patients. Combined with the patient in this study, 31 IGFALS gene variants were identified among the 63 patients, which mainly consisted of missense variants (20 types), with variant sites concentrated in exon 2. The main clinical features were short stature in conjunct with delayed puberty, with a significant genotype-phenotype correlation. CONCLUSION The IGFALS gene variants NM_004970.2: c.741_742del, p.Y248Pfs83 and c.272del, p.P91Rfs31 may be the genetic etiology in this family. This study has expanded the variant spectrum of the IGFALS gene and provided valuable information for the diagnosis, genetic counseling and clinical treatment of the disease.
Humans ; Male ; Phenotype ; Child, Preschool ; Carrier Proteins/genetics* ; Glycoproteins/deficiency* ; Exome Sequencing ; Female ; Mutation ; Insulin-Like Growth Factor I/metabolism* ; Growth Disorders/genetics*

OBJECTIVE

This study aimed to investigate the determinants linked to stunting among infants and young children aged 0-23 months in the Fourth District of Camarines Sur.

METHODS

An analytical cross-sectional study was conducted among 628 primary caregivers with infants and young children aged 0-23 months in four municipalities of the Fourth District of Camarines Sur, Philippines, using a two stage stratified random sampling design. Data on sociodemographic and economic factors were collected through face-to-face interviews. Infant and young child feeding (IYCF) indicators were assessed using a list-based approach, while weight and length were evaluated using the World Health Organization Anthro Plus software. Descriptive statistics and multiple logistic regression were done using R statistical software version 4.3.1.

RESULTS

The study revealed that the prevalence of stunting was of significant public health concern, reaching 42.8%. Holding other variables constant, age of the child (OR=0.77; 95% CI: 0.63-0.94), having college undergraduate mothers (OR=0.26; 95% CI: 0.05-1.28), and belonging to a poor income household (OR=0.40; 95% CI: 0.14-0.88) were associated with stunting among infants aged 0.01-6.00 months. Moreover, after controlling for the confounding effects of other variables, age (OR=1.09; 95% CI: 1.05-1.14) and sex of the child (OR=1.55; 95% CI: 1.05-2.28) were associated with stunting among older children aged 6.00-23.99 months.

CONCLUSION

This study emphasizes the challenge of stunting in the Fourth District of Camarines Sur. None of the IYCF indicators were associated with stunting; however, maternal education, the child’s age, sex, and socioeconomic status were identified as significant factors influencing stunting. Addressing these determinants through targeted interventions focusing on improving maternal education and enhancing socio-economic conditions were crucial to reducing stunting in the study areas.

Human ; Growth Disorders ; Risk Factors ; Nutritional Status ; Infant Nutrition Disorders

Objective: This study aimed to investigate the determinants linked to stunting among infants and young children aged 0-23 months in the Fourth District of Camarines Sur. Methods: An analytical cross-sectional study was conducted among 628 primary caregivers with infants and young children aged 0-23 months in four municipalities of the Fourth District of Camarines Sur, Philippines, using a twostage stratified random sampling design. Data on sociodemographic and economic factors were collected through face-to-face interviews. Infant and young child feeding (IYCF) indicators were assessed using a list-based approach, while weight and length were evaluated using the World Health Organization Anthro Plus software. Descriptive statistics and multiple logistic regression were done using R statistical software version 4.3.1. Results: The study revealed that the prevalence of stunting was of significant public health concern, reaching 42.8%. Holding other variables constant, age of the child (OR=0.77; 95% CI: 0.63-0.94), having college undergraduate mothers (OR=0.26; 95% CI: 0.05-1.28), and belonging to a poor income household (OR=0.40; 95% CI: 0.14-0.88) were associated with stunting among infants aged 0.01-6.00 months. Moreover, after controlling for the confounding effects of other variables, age (OR=1.09; 95% CI: 1.05-1.14) and sex of the child (OR=1.55; 95% CI: 1.05-2.28) were associated with stunting among older children aged 6.00-23.99 months. Conclusion This study emphasizes the challenge of stunting in the Fourth District of Camarines Sur. None of the IYCF indicators were associated with stunting; however, maternal education, the child’s age, sex, and socioeconomic status were identified as significant factors influencing stunting. Addressing these determinants through targeted interventions focusing on improving maternal education and enhancing socio-economic conditions were crucial to reducing stunting in the study areas.
Human ; growth disorders ; risk factors ; nutritional status ; infant nutrition disorders

Background and Objectives: Nutritional deficiency in stunting toddlers is closely related to the calcium deficiency which is the most important component of the formation of bone and tooth structure. Deficiency of calcium can delay tooth eruption and increase the risk of dental caries. Little is known about the difference in dental caries severity on stunting and non-stunting toddlers in Kalisat, Jember, Indonesia. The study aims to examine the differences between the severity of dental caries on stunting and non-stunting toddlers. Methods: This was an analytic observational study with a cross-sectional approach conducted in the working area of Kalisat Health Center, Jember, Indonesia. The population was stunting and non-stunting toddlers aged 25-60 months. The samples were selected using clustered random sampling technique (100 stunting toddlers and 100 non-stunting toddlers). Variables in this research were dental caries and incidence of stunting. The measurement of dental caries in toddlers was carried out by identifying the worst type of dental caries in toddlers, which occurred as pulp irritation (IP), pulp hyperemia (HP), pulp gangrene (GP), and radix gangrene (GR). Data analysis was descriptive. Mann Whitney U-test was used with 0.05 (p-value) as a test to analyze the differences between stunting and non-stunting toddlers’ dental caries. Results: Stunting toddlers had more cases of pulp gangrene and radix gangrene than non-stunting toddlers. Mann Whitney U-Test showed the p-value was 0.038 (p < 0.05) which meant there were differences in dental caries between stunting and non-stunting toddlers. Conclusion Most of the stunting toddlers had more severe dental caries than the non-stunting toddlers.
Dental Caries ; Stunting ; Growth Disorders