Dysplasia epiphysealis multiplex is a rare syndrome, first discribed by Fairbank in 1935, but numerous publications have made it a well-recognized entity. The syndrome is caused by a congenital developmental error of unknown etiology, characterized by changes in the developing epiphyses, dwarfism and stubby digits in children of normal intelligence. Diagnosis is mainly by roentgenographic apperences of the epiphyses before fusion to the shaft. The centers of ossification of the epiphyses are late in appearing, slow in developing, deformed in shape and irregular in density. The spine is never affected, blood and biochemicaI studies show no abnormality. A case of dysplasia epiphysealis multiplex which revealed typical roentgenographic pictures is presented with a brief review of a literature.
Child ; Diagnosis ; Dwarfism ; Epiphyses ; Humans ; Intelligence ; Spine

Growth hormone deficiency (GHD) is a common cause of dwarfism. Most GHD patients are sporadic, whilst 5%-30% are of familial type. X-linked GHD patients are relatively rare. We hereby provide a literature review and report on our latest findings of the disease.
Dwarfism, Pituitary ; diagnosis ; genetics ; Genetic Association Studies ; Humans

Child, Preschool ; Dwarfism ; congenital ; diagnosis ; Humans ; Male ; Osteochondrodysplasias ; congenital

Abnormalities, Multiple ; diagnosis ; genetics ; Child ; Dwarfism ; diagnosis ; genetics ; Humans ; Male ; Syndrome

Achondroplasia and hypochondroplasia are the two most common forms of short-limb dwarfism. They are autosomal dominant diseases that are characterized by a rhizomelic shortening of the limbs, large head with frontal bossing, hypoplasia of the mid-face, genu varum and trident hands. Mutations in the fibroblast growth factor receptor-3 (FGFR3) gene, which is located on chromosome 4p16.3, have been reported to cause achondroplasia and hypochondroplasia. More than 98% of achondroplasia cases are caused by the G380R mutation (c.1138G>A or c.1138G>C). In contrast, the N540K mutation (c.1620C>A) is detected in 60-65% of hypochondroplasia cases. Tests for common mutations are often unable to detect the mutation in patients with a clinical diagnosis of hypochondroplasia. In this study, we presented a case of familial hypochondroplasia with a rare mutation in FGFR3 identified by next generation sequencing.
Achondroplasia ; Diagnosis* ; Dwarfism ; Extremities ; Fibroblast Growth Factors ; Genu Varum ; Hand ; Head ; High-Throughput Nucleotide Sequencing ; Humans

We have detailed our experiences on 6 cases of neonatal lethal short- limbed dwarfism and reviewed thearticles. They include, achondrogenesis, thanatophoric dysplasia, asphsiating thoracic dysplasia, osteogenesisimperfecta congenita, and hypophosphatasia lethalis. Five babies were born alive but died soon after birth and onewas a stillbirth. The main cause of failure to thrive was respiratory insufficiency. Each case was having quitecharacteristic radiologic findings, even if the genearl appearances were similar to the achondroplasts clinically.Precise diagnosis is very important for genetic counselling of the parents and alarm to them the possibility ofbone dysplasias to the next offsprings. For this purpose, the radiologists play major role for the correctdiagnosis. We stress that when the baby is born with short-limbed dwarfism, whole body radiogram should be takenincluding lateral view and postmortem radiogram is also very precious.
Diagnosis ; Dwarfism ; Extremities ; Failure to Thrive ; Humans ; Hypophosphatasia ; Parents ; Parturition ; Respiratory Insufficiency ; Stillbirth ; Thanatophoric Dysplasia

Growth hormone deficiency (GHD) is defined as a serum peak GH concentration <10 ng/mL with provocation as tested by a combination of at least two separate tests. The aim of this study was to compare two standard tests, insulin and levodopa (L-dopa), with a primary focus on specificity and accuracy. Clinical data were collected retrospectively from a review of 120 children who visited the pediatric endocrine clinic at Chonnam National University Hospital for the evaluation of short stature between January 2006 and April 2014. Subjects underwent GH provocation tests with insulin and L-dopa. Blood samples were obtained at 0, 15, 30, 45, 60, 90, and 120 min after administration, and GH levels were measured. In the insulin test, serial glucose levels were also checked, closely monitoring hypoglycemia. A total of 83 children (69.2%) were diagnosed with GHD and 37 children (30.8%) were diagnosed with idiopathic short stature (ISS). Peak GH levels were achieved an average of 45 min after the administration of insulin and L-dopa for both groups. The specificity and accuracy were 78.4% and 93.6% for the insulin test and 29.7% and 79.2% for L-dopa test, respectively. In the ISS group, the cumulative frequency of a GH cutoff value of >10 ng/mL at 120 min was 75.6% after insulin stimulation compared with 35.1% after L-dopa stimulation. Considering these results, we recommend performing the insulin test first to exclude ISS and then the L-dopa test for the diagnosis of GHD. This way, ISS patients are diagnosed after a single test, thus reducing hospital days and the burden of undergoing two serial tests.
Child ; Diagnosis ; Dwarfism ; Glucose ; Growth Hormone ; Humans ; Hypoglycemia ; Insulin ; Jeollanam-do ; Levodopa ; Retrospective Studies ; Sensitivity and Specificity

Short stature is a common physical developmental abnormality in children. Without timely and accurate diagnosis, as well as early intervention, it can impose a heavy burden on the children and their families. There are numerous causes for short stature, and the diagnostic process essentially involves identifying its underlying causes. Based on a thorough understanding of the regular patterns of child physical development and the characteristics of individuals at high risk of short stature, a scientific definition of short stature needs to be established, along with standardized diagnostic and treatment protocols, to achieve early diagnosis or referral for short stature. Furthermore, it is necessary to enhance scientific awareness of short stature among parents and primary care pediatricians, in order to avoid over-treatment, missed diagnoses, and misdiagnoses arising from "misconceptions", and to improve the scientific assessment of short stature.
Humans ; Child ; Dwarfism/diagnosis* ; Child Development ; Parents ; Body Height ; Growth Disorders/etiology*

Asphyxiating thoracic dysplasia(ATD;Jeunes's syndrome) is a rare variety of short limb dwarfism. It is characterized by an extremely small thorax when compared to the ab-dominal circumference, which frequently results in respiratory distress. Other anomalies as-sociated with Jeune's syndrome are pelvic bone malformations and renal dysplasia. It was first described and namely by Jeune et al. in 1954. Jeune's syndrome is an autosomal rece-ssive trait and has a 25% recurrence risk. These patients died at early age due to respirat-ory insufficiency. Death due to uremia has occurred in number of children surviving infan-cy, following progressive renal failure, hypertension and hepatic failure. About 50 cases have been reported in the world literature. We experienced a case of small thorax with short limb dwarfism on antenatal ultraso- und examination and then the baby was delivered by cesarean section. The diagnosis was confirmed to Asphyxiating thoracic dysplasia by clinical features, radiological findings and pathological findings. We reported a case of Asphyxiating thoracic dysplasia with review of literatures.
Cesarean Section ; Child ; Diagnosis ; Dwarfism ; Extremities ; Female ; Humans ; Hypertension ; Liver Failure ; Pelvic Bones ; Pregnancy ; Recurrence ; Renal Insufficiency ; Thorax ; Uremia

PURPOSE: Congenital hypopituitarism is caused by mutations in pituitary transcription factors involved in the development of the hypothalamic-pituitary axis. Mutation frequencies of genes involved in congenital hypopituitarism are extremely low and vary substantially between ethnicities. This study was undertaken to compare the clinical, endocrinological, and radiological features of patients with an isolated growth hormone deficiency (IGHD) or combined pituitary hormone deficiency (CPHD). MATERIALS AND METHODS: This study included 27 patients with sporadic IGHD and CPHD. A mutation analysis of the POU1F1, PROP1, LHX3, LHX4, and HESX1 genes was performed using genomic DNA from peripheral blood leukocytes. RESULTS: IGHD and CPHD were observed in 4 and 23 patients, respectively. Mean age at diagnosis was 8.28±7.25 years for IGHD and 13.48±10.46 years for CPHD (p=0.37). Serum insulin-like growth factor-1 and peak growth hormone (GH) levels following GH stimulation tests were significantly lower in patients with CPHD than in those with IGHD (p<0.05). Sellar MRI findings revealed structural abnormalities in 3 patients with IGHD (75%) and 21 patients with CPHD (91.3%) (p=0.62). A mutation analysis identified homozygous p.R109Q mutations in HESX1 in a patient with CPHD. Patients with CPHD had more severe GHD than those with IGHD. CONCLUSION: The frequency of defects in the genes encoding pituitary transcription factors was extremely low in Korean patients with congenital hypopituitarism. Environmental factors and the impact of other causative genes may contribute to this clinical phenotype.
Diagnosis ; DNA ; Dwarfism, Pituitary ; Growth Hormone* ; Humans ; Hypopituitarism ; Korea* ; Leukocytes ; Magnetic Resonance Imaging ; Mutation Rate ; Phenotype ; Transcription Factors*