Two sisters with prenatal growth failure, disproportionate short stature, and feeding difficulties

1998 ◽  
Vol 7 (4) ◽  
pp. 269-274 ◽  
Author(s):  
F M Cameron ◽  
A D Cameron ◽  
L Crampin ◽  
J L Tolmie ◽  
A G Wilkinson ◽  
...  
Keyword(s):  
Short Stature ◽  
Growth Failure ◽  
Feeding Difficulties ◽  
Prenatal Growth

Short Stature Syndromes: Case Series from India

2021 ◽  
Author(s):  
Inusha Panigrahi ◽  
Parminder Kaur ◽  
Chakshu Chaudhry ◽  
Mohd Shariq ◽  
Devika D. Naorem ◽  
...  
Keyword(s):  
Short Stature ◽  
Genetic Heterogeneity ◽  
Genetic Disorders ◽  
Uniparental Disomy ◽  
Case Series ◽  
Cardiac Defect ◽  
Feeding Difficulties ◽  
Prenatal Growth ◽  
Primordial Dwarfism ◽  
Height Gain

AbstractSyndromes causing short stature include Noonan syndrome (NS), Williams syndrome, and Silver–Russell syndrome (SRS). SRS is a primordial dwarfism with genetic heterogeneity. The SRS children present with prenatal growth retardation, neonatal hypoglycemia, feeding difficulties, physical asymmetry, with scoliosis and cardiac defect in some cases. The incidence is up to 1 in 100,000. Uniparental disomy, methylation abnormalities, and variants in some genes have been found underlying such phenotype. Growth hormone therapy has been used to improve the height gain in these patients. NS has genetic heterogeneity and most patients present with short stature with or without cardiac defect. Multiple genetic variants, mostly autosomal dominant, contribute to the phenotype. With the availability of next-generation sequencing, more and more genetic disorders causing short stature are being identified in different ethnic populations like Kabuki syndrome and Nance–Horan syndrome. Here, we present some cases of SRS and other additional syndromes with dysmorphism seen in past 5 years.

scholarly journals Prenatal intrauterine growth restriction and risk of retinopathy of prematurity

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Alison Chu ◽  
Yasmeen Dhindsa ◽  
Myung Shin Sim ◽  
Marie Altendahl ◽  
Irena Tsui
Keyword(s):  
Gestational Age ◽  
Retinopathy Of Prematurity ◽  
Intrauterine Growth Restriction ◽  
Growth Failure ◽  
Postnatal Growth ◽  
Growth Patterns ◽  
Growth Restriction ◽  
Intrauterine Growth ◽  
Prenatal Growth ◽  
Postnatal Growth Failure

Abstract Low birthweight and decreased postnatal weight gain are known predictors of worse retinopathy of prematurity (ROP) but the role of prenatal growth patterns in ROP remains inconclusive. To distinguish small for gestational age (SGA) from intrauterine growth restriction (IUGR) as independent predictors of ROP, we performed a retrospective cohort study of patients who received ROP screening examinations at a level IV neonatal intensive care unit over a 7-year period. Data on IUGR and SGA status, worst stage of and need for treatment for ROP, and postnatal growth was obtained. 343 infants were included for analysis (mean gestational age = 28.6 weeks and birth weight = 1138.2 g). IUGR infants were more likely to have a worse stage of ROP and treatment-requiring ROP (both p < 0.0001) compared to non-IUGR infants. IUGR infants were more likely to be older at worst stage of ROP (p < 0.0001) and to develop postnatal growth failure (p = 0.01) than non-IUGR infants. Independent of postnatal growth failure status, IUGR infants had a 4–5 × increased risk of needing ROP treatment (p < 0.001) compared to non-IUGR infants. SGA versus appropriate for gestational age infants did not demonstrate differences in retinopathy outcomes, age at worst ROP stage, or postnatal growth failure. These findings emphasize the importance of prenatal growth on ROP development.

scholarly journals SAT-LB14 Anthropometry and Vertebral Abnormality in Children With Transfusion-Dependent Thalassemia in Phramongkutklao Hospital, Bangkok, Thailand

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Nawachai Lertvivatpong ◽  
Voraluck Phatarakijnirund
Keyword(s):  
Short Stature ◽  
Adult Height ◽  
Screening Program ◽  
Multivariate Logistic Regression Analysis ◽  
Growth Failure ◽  
Bone Age ◽  
Team Approach ◽  
Z Score ◽  
Lower Segment ◽  
Tertiary Center

Abstract Anthropometry and vertebral abnormality in Children with Transfusion-dependent Thalassemia in Phramongkutklao HospitalBackgrounds: Thalassemia is an untreatable inherited hematologic disorder, unless stem cell transplantation, characterized by anemia from decreased hemoglobin production. Growth failure is one of the most common endocrine dysfunction in children with transfusion-dependent thalassemia (TDT) Objective: To evaluate the prevalence and associated factors of anthropometry and vertebral abnormality in transfusion-dependent thalassemia (TDT) children in a single tertiary center. Method: A cross-sectional study was conducted in transfusion dependent thalassemia patients who had visited in pediatric hematology clinic during 1st January 2018 to 31st December 2019. Collaborators had examined by history taking, physical examinations, laboratory and radiology reviewed. Results: Eighty-one collaborators were enrolled. Mean age was 13.7 ± 6.4 years and 46 of them (56.8%) were male. Pre-transfusion Hb and serum ferritin were 8.0 ± 1.0 g/dL and 1,562 + 1,394 ng/mL, respectively. Twenty-one (25.9%) had short stature determined by predicted adult height (PAH) below target adult height (TAH), 27(33.3%) had decreased upper-lower segment ratio for and 21 (26%) had BMI z-score below -2SD for age. Delay puberty was found in 13.2% of patients. Radiological examinations revealed delayed bone age of 4.9% and osteopenia of 25.9% whereas no vertebral fracture was documented. In multivariate logistic regression analysis (backward Wald), Serum ALP (p=0.009), mean pre-transfusion hemoglobin &lt;9 g/dL (p&lt;0.001), osteopenia (p=0.05) and delay bone age (p=0.019) were associated with PAH below TAH. Duration of chelation (p=0.013) and osteopenia (p=0.015) were associated with decreased upper-lower segment ratio. Low serum calcium (p=0.009), high serum phosphate (p=0.04) and impaired fasting glucose (p=0.004) were associated with BMI z-score below -2SD for age. Conclusions: Anthropometry abnormalities, including short stature, abnormal upper-lower segment ratio and low BMI, are common in TDT children. However, no vertebral abnormality was found in this study. Routine screening program by multidisciplinary team approach should be applied in thalassemia children.Keywords: Thalassemia major, endocrinopathies, growth failure, short stature, body disproportion

scholarly journals Johanson-Blizzard Syndrome with Short Stature

2016 ◽  
Vol 35 (3) ◽  
pp. 287-289
Author(s):  
Enayatollah Nemat Khorasani ◽  
Fariba Mansouri
Keyword(s):  
Hearing Loss ◽  
Mental Retardation ◽  
Short Stature ◽  
Autosomal Recessive ◽  
Ectodermal Dysplasia ◽  
Growth Failure ◽  
Signs And Symptoms ◽  
Pancreatic Disease ◽  
Abnormal Development ◽  
Exocrine Dysfunction

Johanson–Blizzard syndrome (JBS) is a rare, sometimes fatal autosomal recessive multisystem congenital disorder featuring abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is sometimes described as a form of ectodermal dysplasia. The disorder is especially noted for causing profound developmental errors and exocrine dysfunction of the pancreas, and it is considered to be an inherited pancreatic disease. We report a ten years Irannian child with signs and symptoms suggestive of this syndrome (JBS).J Nepal Paediatr Soc 2015;35(3):287-289.

scholarly journals Short Stature in Chronic Kidney Disease Treated with Growth Hormone and an Aromatase Inhibitor

2015 ◽  
Vol 2015 ◽  
pp. 1-4 ◽  
Author(s):  
Susan R. Mendley ◽  
Fotios Spyropoulos ◽  
Debra R. Counts
Keyword(s):  
Chronic Kidney Disease ◽  
Growth Hormone ◽  
Kidney Disease ◽  
Aromatase Inhibitor ◽  
Short Stature ◽  
Growth Failure ◽  
Advanced Chronic Kidney Disease ◽  
Epiphyseal Fusion ◽  
Long Course ◽  
Severe Growth

We describe an alternative strategy for management of severe growth failure in a 14-year-old child who presented with advanced chronic kidney disease close to puberty. The patient was initially treated with growth hormone for a year until kidney transplantation, followed immediately by a year-long course of an aromatase inhibitor, anastrozole, to prevent epiphyseal fusion and prolong the period of linear growth. Outcome was excellent, with successful transplant and anticipated complete correction of height deficit. This strategy may be appropriate for children with chronic kidney disease and short stature who are in puberty.

scholarly journals Three years of growth hormone therapy in children born small for gestational age: results from the ANSWER Program

2018 ◽  
Vol 7 (10) ◽  
pp. 1096-1104 ◽  
Author(s):  
Robert Rapaport ◽  
Peter A Lee ◽  
Judith L Ross ◽  
Paul Saenger ◽  
Vlady Ostrow ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Short Stature ◽  
Gestational Age ◽  
Small For Gestational Age ◽  
Growth Failure ◽  
Hormone Deficiency ◽  
Birth Size ◽  
Growth Disorders ◽  
Gh Therapy ◽  
The Impact

Growth hormone (GH) is used to treat short stature and growth failure associated with growth disorders. Birth size and GH status variably modulate response to GH therapy. The aim of this study was to determine the effect of birth size on response to GH therapy, and to determine the impact of GH status in patients born small for gestational age (SGA) on response to GH therapy. Data from the prospective, non-interventional American Norditropin Studies: Web-Enabled Research (ANSWER) Program was analyzed for several growth outcomes in response to GH therapy over 3 years. GH-naïve children from the ANSWER Program were included in this analysis: SGA with peak GH ≥10 ng/mL (20 mIU/L), SGA with peak GH <10 ng/mL (20 mIU/L), isolated growth hormone deficiency (IGHD) born SGA, IGHD not born SGA and idiopathic short stature. For patients with IGHD, those who did not meet criteria for SGA at birth showed greater improvements in height SDS and BMI SDS than patients with IGHD who met criteria for SGA at birth. For patients born SGA, response to GH therapy varied with GH status. Therefore, unlike previous guidelines, we recommend that GH status be established in patients born SGA to optimize GH therapy.

Familial Forms of Cushing Syndrome in Primary Pigmented Nodular Adrenocortical Disease Presenting with Short Stature and Insidious Symptoms: A Clinical Series

2018 ◽  
Vol 89 (6) ◽  
pp. 423-433 ◽  
Author(s):  
Constanza Navarro Moreno ◽  
Amaury Delestienne ◽  
Etienne Marbaix ◽  
Selda Aydin ◽  
Konstanze Hörtnagel ◽  
...  
Keyword(s):  
Weight Gain ◽  
Short Stature ◽  
Rare Disease ◽  
Cushing Syndrome ◽  
Growth Failure ◽  
Skin Lesions ◽  
Carney Complex ◽  
Clinical Series

Cushing syndrome (CS) is a rare disease in children, frequently associated with subtle or periodic symptoms that may delay its diagnosis. Weight gain and growth failure, the hallmarks of hypercortisolism in pediatrics, may be inconsistent, especially in ACTH-independent forms of CS. Primary pigmented nodular adrenocortical disease (PPNAD) is the rarest form of ACTH-independent CS, and can be associated with endocrine and nonendocrine tumors, forming the Carney complex (CNC). Recently, phenotype/genotype correlations have been described with particular forms of CNC where PPNAD is isolated or associated only with skin lesions. We present four familial series of CS due to isolated PPNAD, and compare them to available data from the literature. We discuss the clinical and molecular findings, and underline challenges in diagnosing PPNAD in childhood.

scholarly journals The prevalence and volumetry of pituitary cysts in children with growth hormone deficiency and idiopathic short stature

2018 ◽  
Vol 0 (0) ◽  
Author(s):  
Nicholas Krasnow ◽  
Bradley Pogostin ◽  
James Haigney ◽  
Brittany Groh ◽  
Winston Weiler ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Short Stature ◽  
Growth Failure ◽  
Brain Magnetic Resonance Imaging ◽  
Idiopathic Short Stature ◽  
Hormone Deficiency ◽  
Gh Treatment ◽  
Cyst Volume ◽  
Pituitary Cysts

AbstractBackgroundPituitary cysts have been speculated to cause endocrinopathies. We sought to describe the prevalence and volumetry of pituitary cysts in patients with growth hormone deficiency (GHD) and idiopathic short stature (ISS).MethodsSix hundred and eighteen children evaluated for growth failure at the Division of Pediatric Endocrinology at New York Medical College between the years 2002 and 2012, who underwent GH stimulation testing and had a brain magnetic resonance imaging (MRI) prior to initiating GH treatment were randomly selected to be a part of this study. High resolution MRI was used to evaluate the pituitary gland for size and the presence of a cyst. Cyst prevalence, cyst volume and percentage of the gland occupied by the cyst (POGO) were documented.ResultsFifty-six patients had a cyst, giving an overall prevalence of 9.1%. The prevalence of cysts in GHD patients compared to ISS patients was not significant (13.5% vs. 5.7%, p=0.46). Mean cyst volume was greater in GHD patients than ISS patients (62.0 mm3vs. 29.4 mm3, p=0.01). POGO for GHD patients was significantly greater (p=0.003) than for ISS patients (15.3%±12.8 vs. 7.1%±8.0). Observers were blinded to patient groups.ConclusionsGHD patients had a significantly greater volume and POGO compared to ISS patients. This raises the question of whether cysts are implicated in the pathology of growth failure.

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