No abstract available.
Achondroplasia*

No abstract available.
Achondroplasia* ; Humans ; Hydrocephalus*

A 22-month-old male diagnosed with achondroplasia was referred for difficulty in sleeping and was diagnosed to have severe obstructive sleep apnea (OSA) on polysomnography (PSG) (AHI 50.1). This patient had macrocephaly, midface hypoplasia, flat nasal bridge, relative macroglossia and enlarged palatine and adenoid tonsils. The patient underwent bilateral tonsillectomy with adenoidectomy without complication. Six months post-op, repeat polysomnography revealed a still severe (AHI 15.7) OSA with preferential recovery of REM and N3 sleep. Further outpatient follow-up and management is warranted. OSA despite being common in this subset of patients remains overlooked and not prioritized because of the multitude of coexisting concerns. Management of OSA in children with achondroplasia shows improved sleep structure and is helpful for further growth and development.
achondroplasia ; OSA ; tonsillectomy

Humans ; Achondroplasia/therapy*

Hypochondroplasia is a form of short
Achondroplasia ; Christianity ; Dwarfism ; Extremities ; Hand

We experienced a case of achondroplasia in 34 month old male infant. Diagnosis was suspected by clinical features and radiologic examination. A review of literature was made briefly.
Achondroplasia* ; Child, Preschool ; Diagnosis ; Humans ; Infant ; Male

OBJECTIVE: The aim of this study is to evaluate the effectiveness of the syringo-subarachnoid shunt for the syringomyelia, according to the clinical outcome and radiological changes. METHODS: Ten patients who underwent syringo-subarachnoid shunt during last 5 years were included in this analysis. The average age at the presentation was 32.6(range 7 to 51) years. Chiari I malformation was found in four patients, Post-infectious syringomyelia was in three patients, and posttraumatic syringomyelia in two patients. The most common presenting symptoms were motor weakness and pain. Radiological diagnosis was made by magnetic resonance image in all patients. All patients underwent syringo-subarachnoid shunt, and in five patients with Chiari I malformation or achondroplasia, foramen magnum decompression was done as well. RESULTS: Eight showed the significant clinical improvement. Remaining two patients showed stabilization of the symptom. The postoperative magnetic resonance image, performed in seven cases, showed the reduction of the syrinx size in all case. There was no shunt malfunction or infection in our series. The transient cerebospinal fluid leakage was noted in three cases. CONCLUSION: It appears that the syringo-subarachnoid shunt is beneficial surgical method for the syringomyelia of various etiologies.
Achondroplasia ; Decompression ; Diagnosis ; Foramen Magnum ; Humans ; Syringomyelia*

BACKGROUND: Achondroplasia is the most common form of dwarfism. The achondroplasia class consists of achondroplasia, thanatophoric dysplasia and hypochondroplasia. Clinical symptoms are variable, but the common gene, fibroblast growth factor receptor 3 (FGFR3), could account for these variable conditions. We tried to isolate the molecular defects in Korean patients with achondroplasia and hypochondroplasia. METHODS: The sites frequently mutated (G380R and N540K) of the FGFR3 gene of seventeen Korean patients with skeletal dysplasia (16 cases of achondroplasia and one of hypochondroplasia) were analyzed by PCR-RFLP and confirmed by direct sequencing. RESULTS: Missense mutations, which cause G380R of the FGFR3, were present in 15/16 (93.7%) achondroplasia patients. Among these, G to A transition was found in 14 of the 15 (93.3%) patients, and a G to C transversion in a single (6.6%) patient. One case did not show any mutation of the FGFR3 gene reported in achondroplasia, including G375C. A patient with suspected hypochondroplasia exhibited the common C to G transversion mutation, resulting in N540K. CONCLUSIONS: The mutations at codons 380 and 540 of the FGFR3 gene were also found to be common causative mutations of achondroplasia and hypochondroplasia, respectively, in Koreans. These mutations could be used as the target of molecular diagnosis. Based on this simple molecular study, genetic counseling for skeletal dysplasia and prenatal diagnosis will be possible.
Achondroplasia* ; Codon ; Diagnosis ; Dwarfism ; Fibroblast Growth Factors* ; Fibroblasts* ; Genetic Counseling ; Humans ; Mutation, Missense ; Prenatal Diagnosis ; Receptor, Fibroblast Growth Factor, Type 3* ; Receptors, Fibroblast Growth Factor* ; Thanatophoric Dysplasia

Achondroplasia is abnormal intracartilagenous ossification that's caused by a genetic point mutation. Thoracic myelopathy in achondroplasia that is due to thoracolumbar kyphosis and spinal stenosis is a rare finding. There is no report available on this topic in Korea. We report here a case of achondroplasia with thoracic myelopathy due to thoracolumbar kyphosis and spinal stenosis, and we include a brief review of literature.
Achondroplasia* ; Korea ; Kyphosis* ; Point Mutation ; Spinal Cord Diseases* ; Spinal Stenosis*

Achondroplasia is the most common non-lethal skeletal dysplasia. Underdevelopment and premature ossification of bones result in characteristic craniofacial and spinal abnormalities. Achondroplastic dwarfs have low fertility rates and require delivery by cesarean section due to their cephalo-pelvic disproportion. Controversy exists regarding the ideal anesthesia for an achondroplastic parturient dwarf for urgent cesarean section. Anesthesia, whether general or regional, presents many potential problems during cesarean section. We report the experience of the epidural anesthesia in an achondroplastic dwarf undergoing elective cesarean section.
Achondroplasia ; Anesthesia ; Anesthesia, Epidural ; Birth Rate ; Cesarean Section ; Female ; Pregnancy