No abstract available.
Silver-Russell Syndrome*

Silver-Russell Syndrome (SRS) is a rare disorder associated with prenatal and postnatal growth retardation with associated characteristic facial and ocular features including strabismus. We report the outcome of strabismus surgery performed for exotropia in a 4-year-old patient with SRS. The patient presented with decreased visual acuity and constant exotropia of the right eye noted since 3 months of age. Systemic SRS characteristics consisted of relative macrocephaly, short stature, forehead prominence and stunted growth pattern. An X-pattern exotropia is consistent with bilateral tight lateral recti muscles with overelevation in adduction of the left eye was present. Patient underwent unilateral right lateral rectus recession and right medial rectus resection for a 50-prism diopter constant exotropia. Patient had a favorable outcome of within 8 prism diopters from orthotropia at 1st, 3rd-, 6th- and 12th-month post-operatively.
Russell Syndrome ; exotropia ; macrocephaly

The Silver-Russell syndrome (SRS) is characterized by severe asymmetric intrauterine growth restriction, with a preserved head circumference, leading to a lean body habitus and short stature. Facial dysmorphism and asymmetry are considered typical features of the syndrome, although the range of phenotypic variance is unknown. There is no definite known etiology of SRS. Most cases occur sporadically with no previous family history. However, there are rare occurrences where SRS is present in more than one member of a family. We report a case of familial Silver-Russell syndrome with literatures.
Head ; Humans ; Silver-Russell Syndrome*

No abstract available.
Child* ; Hand* ; Humans ; Silver-Russell Syndrome*

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

We present a 4-years-old Russell-Silver syndrome patient who underwent surgical correction of left auricular abnormality. He had a triangular face with hypoplastic mandible. Because of facial manifestations of this syndrome, the anesthesiologist should prepare for a difficult endotracheal intubation and mask fitting. These patients may be prone especially to hypoglycemia and hypothermia during intraoperative period, therefore close monitoring and appropriate care for hypoglycemia and hypothermia is required. In this case, gentle direct laryngoscopy was performed to assess the airway. Hypoglycemia and hypothermia was not observed. We discuss anesthetic considerations in management.
Anesthesia ; Humans ; Hypoglycemia ; Hypothermia ; Intraoperative Period ; Intubation ; Intubation, Intratracheal ; Laryngoscopy ; Mandible ; Masks ; Silver-Russell 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

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*

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*