Russell-Silver syndrome (RSS) is a congenital disease characterized by short stature due to growth hormone deficiency, physical asymmetry, inverted triangular face, micrognathia, prominent forehead, and hypodontia. This case report presents a prosthetic management of a 6-year-old patient with Russell-Silver syndrome treated with overdentures on the maxilla and the mandible using the remaining primary teeth. Subsequent and comprehensive dental management considering the growth and development of a young patient will be necessary.
Anodontia ; Child ; Denture, Overlay ; Forehead ; Growth and Development ; Growth Hormone ; Humans ; Mandible ; Maxilla ; Silver-Russell Syndrome* ; Tooth, Deciduous

Silver-Russell syndrome (SRS) is a rare genetic disorder with non-specific manifestations and severity, so that the clinical diagnosis of SRS remains difficult. We reported a 23-year-old female patient with SRS characterized with short body stature, asymmetry, obesity, fifth finger clinodactyly and dislocation of hip. The patient had a past history of lengthening operation on the right lower limb at the age of 10. Chromosome analysis revealed (46, XX). The patient was admitted due to severe asymmetry in low extremities caused by right-side obesity. After successful orthopedic surgery in the right hips and thighs the symptoms of patient were relieved.
Female ; Humans ; Silver-Russell Syndrome ; Young Adult

An 8-year-old girl diagnosed with dilated cardiomyopathy and Russell-Silver syndrome was admitted to our pediatric intensive care unit due to low cardiac output and multiple-organ dysfunction. The patient was placed on the heart transplant waiting list and extracorporeal membrane oxygenation was performed as a bridge to transplantation. After 17 days, heart transplantation was performed. The donor was a 46-year-old female (weight, 50 kg; height, 150 cm). The donor:recipient weight ratio was 3.37:1. Because the dimension and volume of the recipient's thoracic cage were insufficient, the sternum could not be closed. Nine days after transplantation, the patient underwent delayed sternal closure. To obtain adequate space, we left the sternum 4.5 cm apart from each margin using four transverse titanium plates. A transverse rectus abdominis musculocutaneous flap was chosen to cover the wound. Due to the shortage of donors, a size-mismatched pediatric heart transplantation is sometimes unavoidable. Closure of the opened sternum of a transplant recipient can be challenging. Sternal reconstruction after an extremely oversized heart transplantation with transverse titanium plate fixation and a musculocutaneous flap can effectively achieve sternal closure and stability.
Cardiac Output, Low ; Cardiomyopathy, Dilated ; Child ; Extracorporeal Membrane Oxygenation ; Female ; Heart ; Heart Transplantation* ; Humans ; Intensive Care Units ; Middle Aged ; Myocutaneous Flap* ; Rectus Abdominis* ; Silver-Russell Syndrome ; Sternum ; Thoracic Wall* ; Tissue Donors ; Titanium ; Transplantation ; Waiting Lists ; Wounds and Injuries

OBJECTIVETo improve the accuracy of the diagnosis of the disease on the basis of the clinical features and genetic characteristics of patients with Silver Russell syndrome (SRS).

METHODPatients diagnosed with SRS by Price criteria in 2006 to 2011 were reviewed for their clinical manifestations, physical signs, laboratory examinations and treatments.

RESULTTwenty cases with SRS were 0.08-12.17 yr old. Fifteen were male and 5 were female. The clinical characteristics included more than 80% of cases had postnatal growth retardation 100% (20/20), craniofacial dysmorphism 100% (20/20), small for gestation age 95% (19/20), asymmetry and thinning of the face and/or limbs 90% (18/20), fifth finger clinodactyly 80% (16/20), BMI < -2 SDS 80% (16/20). Their height was obviously lagging behind in the bone age. HD SDS/average of bone retardation was 3.08. The two patients with the chief complaint of external genital abnormalities would have aggressive surgical treatment and they did not use the growth hormone (GH) treatment. Only six patients had used the GH treatment. GH treatment at a dose of 0.1 IU/(kg·d) used in 2 cases achieved a growth velocity (GV) 8 - 11 cm/yr but in another 2 cases < 5 cm/yr. In genetic study, 6 patients were found to have 11p15 low methylation, 1 had low and high methylation, 1 had duplication, no relation between clinical and methylation of 11p15 was found.

CONCLUSIONThere were great variations of clinical features in SRS characterized by small for gestation age and/or postnatal growth retardation, craniofacial dysmorphism, asymmetry of the face and/or limbs or ultrafine limbs, fifth finger clinodactyly. Severely low BMI was seen and height was obviously lagging behind in the bone age. The findings of laboratory tests and imaging of SRS were not specific. Some of SRS had 11p15 imprinting defects. The treatment of SRS is mainly symptomatic.

Abnormalities, Multiple ; diagnosis ; genetics ; Adolescent ; Body Height ; Bone Density ; Child ; Child, Preschool ; Chromosomes, Human, Pair 11 ; genetics ; DNA Methylation ; Female ; Genetic Association Studies ; Genomic Imprinting ; Growth Disorders ; diagnosis ; genetics ; Humans ; Infant ; Male ; Retrospective Studies ; Silver-Russell Syndrome ; diagnosis ; genetics

Overgrowth syndromes comprise a diverse group of conditions with unique clinical, behavioral and molecular genetic features. While considerable overlap in presentation sometimes exists, advances in identification of the precise etiology of specific overgrowth disorders continue to improve clinicians' ability to make an accurate diagnosis. Among them, this paper introduces two classic genetic overgrowth syndromes: Sotos syndrome and Beckwith-Wiedemann syndrome. Historically, the diagnosis was based entirely on clinical findings. However, it is now understood that Sotos syndrome is caused by a variety of molecular genetic alterations resulting in haploinsufficiency of the NSD1 gene at chromosome 5q35 and that Beckwith-Wiedemann syndrome is caused by heterogeneous abnormalities in the imprinting of a number of growth regulatory genes within chromosome 11p15 in the majority of cases. Interestingly, the 11p15 imprinting region is also associated with Russell-Silver syndrome which is a typical growth retardation syndrome. Opposite epigenetic alterations in 11p15 result in opposite clinical features shown in Beckwith-Wiedemann syndrome and Russell-Silver syndrome. Although the exact functions of the causing genes have not yet been completely understood, these overgrowth syndromes can be good models to clarify the complex basis of human growth and help to develop better-directed therapies in the future.
Beckwith-Wiedemann Syndrome* ; Epigenomics ; Genes, Regulator ; Genomic Imprinting ; Haploinsufficiency ; Humans ; Molecular Biology ; Silver-Russell Syndrome ; Sotos Syndrome*

Female ; GTP-Binding Protein gamma Subunits ; genetics ; Humans ; Male ; Mutation ; Pedigree ; Silver-Russell Syndrome ; diagnosis ; genetics

The Silver-Russell syndrome(SRS) is a clinically heterogeneous syndrome characterized by intrauterine and postnatal growth retardation with spared cranial growth, characteristic facial features, and body asymmetry. Although mild to moderate hypoglycemic symptoms occasionally appear in children with SRS especially those who are not fed frequently and regularly, hypoglycemic seizures rarely occur. We report a rare case of SRS which was diagnosed in a 4-year-old female who admitted with hypoglycemic seizure. The patient showed the characteristic features of SRS. Endocrinologic studies were normal except for partial growth hormone insufficiency. To prevent seizures and chronic neurologic deficits in children with SRS, the early recognition and appropriate management of hypoglycemia is critical.
Child ; Female ; Growth Hormone ; Humans ; Hypoglycemia ; Neurologic Manifestations ; Preschool Child ; Seizures ; Silver-Russell Syndrome

In vitro fertilization (IVF) is a main option for the infertility treatment and its major concerns are the risk of multiple pregnancy, preterm delivery, intrauterine growth retardation (IUGR), and congenital malformation. Russell-Silver syndrome (RS) is a congenital disorder characterized by intrauterine and postnatal growth retardation associated with inverted triangular face, clinodactyly, and asymmetry of the body. The possibility of genomic imprinting defect has been suggested because the risk of RS syndrome is increased after IVF like other imprinting defect disorders such as Angelman or Beckwith-Wiedemann syndrome, and the major epigenetic disturbance of RS syndrome is the hypomethylation of the imprinting in 11p15. We report three cases of RS syndrome in one of IVF twins with a review of the literature.
Beckwith-Wiedemann Syndrome ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Epigenomics ; Female ; Fertilization in Vitro ; Fetal Growth Retardation ; Genomic Imprinting ; Humans ; Infertility ; Pregnancy ; Pregnancy, Multiple ; Silver-Russell Syndrome ; Twins

The Russell-Silver syndrome (RSS) is a disease characterized by intrauterine growth retardation with preserved head circumference, facial dysmorphism and short stature. Reported renal and urinary manifestations of RSS include horseshoe kidney, renal tubular acidosis, hydronephrosis, ureteropelvic obstruction and vesicoureteral reflux. Here we report a case of end-stage renal disease associated with RSS, which, to the best of our knowledge, has not been reported yet.
Acidosis, Renal Tubular ; Fetal Growth Retardation ; Head ; Hydronephrosis ; Kidney ; Kidney Failure, Chronic ; Silver-Russell Syndrome ; Vesico-Ureteral Reflux

Russell-Silver syndrome is characterized by low birth weight, growth retardation, delayed bone age, asymmetry, abnormal sexual development, cranio-facial disproportion, short little finger and clinodactyly. Short stature is the major concern, so there have been interests treating Russell-Silver syndrome with human growth hormone. However, there are no large-scale controlled studies to confirm the effectiveness of growth hormone therapy until now because of the rarity of this disorder. In Korea, we cannot find reports dealing with growth hormone treatment in Russell-Silver syndrome. We present three children with Russell-Silver syndrome who showed accelerated growth with growth hormone treatment.
Child ; Fingers ; Growth Hormone* ; Human Growth Hormone ; Humans ; Infant, Low Birth Weight ; Infant, Newborn ; Korea ; Sexual Development ; Silver-Russell Syndrome*