Achondroplasia, the most common form of skeletal dysplasia in man, has autosomal dominant inheritance and causes severe dwarfism. More than 90% of patients with achondroplasia have a G to A transversion or G to C transversion at position 1138 of the fibroblast growth factor receptor-3 (FGFR3) gene resulting in the substitution of an arginine for a glycine residue at position 380 (G380R) of the ...

A 1-year 9-month-old girl presented with achondroplasia. Serial magnetic resonance (MR) imaging demonstrated mild compression of the medulla oblongata by the occipital bone, macrocrania, and progressive hydrocephalus. Cerebrospinal fluid (CSF) flow study using MR imaging clearly demonstrated CSF flow disturbance at the cervicospinal junction. Foramen magnum decompression was performed for her h...

INTRODUCTION The incidence of achondroplasia is very low, and the birth of two or more consecutive babies with achondroplasia to unaffected parents is a rarity. We report a rare case of recurrent achondroplasia in babies of unaffected parents. CASE PRESENTATION A 29-year-old Nigerian Igbo woman who has had three consecutive dead achondroplastic babies presented at a gestational age of 31 week...

We report the case of an achondroplastic female who presented with acute neurologic decline following epidural anesthesia for elective cesarean section. Achondroplasia presents unique anatomical challenges to anesthesiologists in perioperative management, and sections are standard pregnancies. High rates spinal stenosis lumbar radiculopathy this patient population make administration analgesia ...

BACKGROUND Achondroplasia is the most common short stature skeletal dysplasia, with an estimated worldwide prevalence of 250 000. Body mass index (BMI)-for-age references are required for weight management guidance for children with achondroplasia, whose body proportions are unlike those of the average stature population. OBJECTIVE This study used weight and height data in a clinical setting ...

Achondroplasia a common form of dwarfism, caused by a single recurrent point mutation in more than 97% of patients, is an autosomal dominant disorder with an incidence of approximately 1/7500. The name of this disease was called Chondrodystrophia foetalis before Parrot in 1878 reported the name of this disease as Achondroplasia, distinguished from other similar diseases. The present case report...

Achondroplasia is the most frequent nonlethal skeletal dysplasia, with a prevalence of 1 : 5000 to 1 : 40,000 live births, and it is caused by a fibroblast growth factor receptor alteration. The combination of achondroplasia and Klinefelter syndrome is extremely rare and just four reports have been published in the literature, which were all diagnosed postnatally. We report the fifth case descr...

INTRODUCTION Achondroplasia is a musculoskeletal disorder associated with short stature. Despite an estimated prevalence of 1:25,000 in the general population, there is little literature concerning the diagnostic and treatment challenges faced by doctors dealing with a heart operation on a patient with this condition. CASE PRESENTATION We present the case of a 41-year-old Caucasian man of Gre...

Activating mutations in FGFR3 cause achondroplasia and thanatophoric dysplasia, the most common human skeletal dysplasias. In these disorders, spinal canal and foramen magnum stenosis can cause serious neurologic complications. Here, we provide evidence that FGFR3 and MAPK signaling in chondrocytes promote synchondrosis closure and fusion of ossification centers. We observed premature synchondr...