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

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

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

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*

Osteochondrodysplasia is a heterogeneous group of disorders appearing short limbed dwarfism. Because many of these entities are lethal and hereditary, an accurate diagnosis is mandatory. The purpose of this study is to define the clinicopathologic features and radiologic findings of osteochondrodysplasia. We reviewed 29 autopsy cases of congenital short limbed dwarfism, consisting of thanatophoric dysplasia (TD) (12 cases), osteogenesis imperfecta (OI) (12 cases), asphyxiating thoracic dysplasia (ATD) (3 cases), short-rib-polydactyly syndrome (SRPS) (1 case) and hypochondrogenesis (1 case). The gestational age ranged from 16 to 41 weeks. Of 6 fetuses that were born alive, 3 were ATD, 2 were TD and 1 was hypochondrogenesis. TD was frequently complicated by hydramnios. Of 8 cases studied chromosomally, only 1 showed chromosomal abnormality -46XY, inv 9. Intrauterine growth retardation was frequently associated with OI. Pulmonary hypoplasia was present in 23 cases (79%), including all cases of ATD, SRPS and hypochondrogenesis, 11 in TD and 7 in OI. Other associated anomalies were present in 17 cases (59%).
Autopsy* ; Chromosome Aberrations ; Diagnosis ; Dwarfism ; Extremities ; Fetal Growth Retardation ; Fetus ; Gestational Age ; Osteochondrodysplasias* ; Osteogenesis Imperfecta ; Polyhydramnios ; Thanatophoric Dysplasia

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