Search Results

You are looking at 1 - 10 of 170 items for :

  • "achondroplasia" x
  • All content x
Clear All
Restricted access

James A. J. King, Shobhan Vachhrajani, James M. Drake, and James T. Rutka

A chondroplasia is the most common form of human short-limbed dwarfism and is one of a spectrum of diseases caused by mutations in the FGFR3 gene. Achondroplasia is estimated to occur in 1 in 10,000–30,000 live births. 22 , 25 The disease is autosomal dominant, but 80% of patients have new mutations. The classic features of achondroplasia include a long, narrow trunk and short limbs. The head is generally large, with frontal prominence, and the face is hypoplastic. Hypotonia is a common feature in infancy and is a factor in motor developmental delay

Restricted access

June Yoshii and Vincent C. Traynelis

A chondroplasia , an autosomal dominant inherited disease, is the most common form of skeletal dysplasia, occurring in 1 of every 15,000–40,000 live births. 6 Approximately 98% of patients with achondroplasia have a mutation resulting from G-to-A substitution in the FGFR3 gene; the majority of cases result from a sporadic, de novo mutation. 2 Fibroblast growth factor receptor–3 is a negative regulator of bone growth. 8 In endochondral bone development, the mutation increases the fibroblast growth factor receptor–3 signaling, which interferes with

Restricted access

Timothy C. Ryken and Arnold H. Menezes

A chondroplasia is the most common form of short-limbed dwarfism. 4 Defects in the rate of enchondral ossification result in a variety of skeletal malformations, generally recognizable at birth. 28 Achondroplasia is distinguished from pseudoachondroplasia and the other osteochondrodysplasias by the inheritance pattern, clinical presentation, and distinct radiological findings. 4, 36, 37 Generalized spinal stenosis with spinal cord compression occurs, often requiring surgical decompression. 3, 6, 8, 26 In addition, abnormalities in the formation of the

Restricted access

David F. Morgan and Ronald F. Young

A chondroplasia is a congenital, disfiguring disease of endochondral bone formation; it may be associated with catastrophic neurological complications. While achondroplasia is the most common form of rhizomelic dwarfism, with an estimated incidence of 15 per million population in the United States, 24 it was for a long time considered an innocuous curiosity of nature, and compatible with an unlimited lifetime of normal neurological function. Early reports of the neurological complications associated with achondroplasia were provided by Dandy in 1921, 5 and

Restricted access

Des Raj Gulati and Damodar Rout

A tlantoaxial dislocation in a patient with achondroplasia has not previously been reported. We are presenting a case of compression of the upper cervical cord due to atlantoaxial dislocation in a child with achondroplasia. Case Report This 3-year-old achondroplastic boy was the fifth born, normally delivered, of healthy parents. There was no family history of dwarfism. This child was first brought for examination at the age of 3 months because of an enlarged head (circumference, 42.5 cm). Neurological examination was normal. Subdural taps were negative

Restricted access

R. Shane Tubbs and W. Jerry Oakes

S ymptomatic lumbar stenosis is a common finding in patients with achondroplasia, usually affecting the upper lumbar levels. 15 Decompressive procedures normally deal with these compressive symptoms effectively. 15 Priapism, or involuntary penile erection, is a rare finding in patients with spinal stenosis. 4, 9 This tumescent state of the penis in the absence of sexual excitation is an enigmatic and devastating erectile disorder. 3 Persistent erection is an extremely rare problem in childhood. 2 We present the unusual occurrence of priapism in an

Restricted access

Ralph T. W. M. Thomeer and J. Marc C. van Dijk

T hroughout the ages individuals affected with achon droplastic dwarfism have been a source of artistic inspiration. Their distinguishing appearance can be recognized in ancient Egyptian pictorials, in paintings by Velázquez, and in the writings of Charles Dickens. Their social status varied from worshipped demigods to medieval court jesters and clowns. 3, 10, 12 Originally described by Parrot 9 in 1878, achondroplasia currently is the most frequent and well-known form of dwarfism. Its characterizing clinical features include a disproportionate stature with

Restricted access

Hiroshi Yamada, Shigetoshi Nakamura, Masataka Tajima, and Naoki Kageyama

A chondroplasia is the most common and best known form of infantile dwarfism. 18 The usual neurological manifestations of achondroplasia have been reported to be macrocrania 3, 5, 7, 23, 34 and cauda equina compression due to a narrow spinal canal. 10, 11, 13, 19, 29, 31 Head enlargement has been considered to be caused by true megalencephaly or hydrocephalus. The occurrence of a symptomatic narrow lumbar canal is rare in pediatric patients, but the presence of medulla or cord compression in a small foramen magnum seems to be rather frequent. 4 We have

Restricted access

Nathan Moskowitz, Benjamin Carson, Steven Kopits, Roy Levitt, and Graeme Hart

A chondroplasia is an autosomal-dominant skeletal dysplasia affecting approximately one in every 26,000 live-born infants. 5 Individuals with homozygous achondroplasia (AA) are the progeny of matings between two heterozygote achondroplastic parents (Aa × Aa). 4 Homozygous achondroplasia forms a distinct clinical entity presenting with more severe characteristics than those expressed in the heterozygous individual. 6 Compared to heterozygous infants, homozygous infants have a disproportionately larger neurocranium and a smaller foramen magnum. In addition

Restricted access

Dale Swift, Laszlo Nagy, and Brian Robertson

H ydrocephalus has been recognized in patients with achondroplasia at least since the time of Dandy. 5 Currently, indications for surgical intervention are controversial. In the absence of overt symptoms or signs of raised ICP (for example, headaches or papilledema), achondroplasia patients with large ventricles are usually considered “compensated”—a condition that is often viewed with some suspicion by pediatric neurosurgeons. 27 The first investigation of the possible etiology of hydrocephalus in achondroplasia was conducted in 1972 by James et al