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They stated the impression that some achondroplasts have only megalencephaly, others have true communicating hydrocephalus, and yet others have dilated ventricles without hydrocephalus. (1984) focused attention on the risk of sudden unexpected death in infants with achondroplasia.
While uncontrolled and retrospective, their study demonstrated an excess of deaths in the first year of life, most or all of which were attributable to abnormalities at the craniocervical junction. (1995) performed a prospective assessment of risk for cervical medullary-junction compression in 53 infants, 5 of whom were judged to have sufficient craniocervical junction compression to require surgical decompression.
Disproportion between the base of the skull and the brain results in internal hydrocephalus in some cases.
The hydrocephalus may be caused by increased intracranial venous pressure due to stenosis of the sigmoid sinus at the level of the narrowed jugular foramina (7438842]" pmid="7438842"Hall et al.
Limb shortening is especially striking in the proximal segments, e.g., the humerus; hence the description rhizomelic ('root limb').
The radiologic features of true achondroplasia and much concerning the natural history of the condition were presented by 6023888]" pmid="6023888"Dennis et al., 1961).
(1991) found that cognitive development was average and did not correlate with motor development which typically was delayed.
It was noteworthy that reduced mental capacity correlated with evidence of respiratory dysfunction detected by polysomnography.
The best predictors of need for suboccipital decompression included lower-limb hyperreflexia or clonus on examination, central hypopnea demonstrated by polysomnography, and foramen magnum measures below the mean for children with achondroplasia.It was considered unlikely that SEDC and achondroplasia are allelic because of the evidence that most, if not all, cases of SEDC result from mutation in the type II collagen gene (COL2A1; 120140), whereas this gene has been excluded as the site of the mutation in achondroplasia.Evidence that hypochondroplasia (146000) can be caused by an allele at the achondroplasia locus came from observations of a presumed genetic compound in the offspring of an achondroplastic father and a hypochondroplastic mother who exhibited growth deficiency and radiographic abnormalities of the skeleton that were much more severe than those typically seen in achondroplasia (4697848] [Full Text]" pmid="4697848"Huggins et al.Molecular analysis confirmed the compound heterozygosity of both children, who displayed an intermediate phenotype that was more severe than either condition in the heterozygous state but less severe than homozygous ACH. (1988) reported an achondroplastic patient who developed classic ankylosing spondylitis (106300).There is no fundamental connection between the 2 disorders.Achondroplasia is the most frequent form of short-limb dwarfism.Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by 7847369]" pmid="7847369" Whereas many conditions that cause short stature have inappropriately been called achondroplasia in the past, the phenotype of this osteochondrodysplasia is so distinctive and so easily identified clinically and radiologically at birth that confusion should not occur.A thoracolumbar gibbus is typically present at birth, but usually gives way to exaggerated lumbar lordosis when the child begins to ambulate.Mild to moderate hypotonia is common, and motor milestones are usually delayed.After this height, the W/H curves for achondroplastic patients rise above those for the general population. (1996) contended that the best estimation of weight excess for achondroplastic patients aged 3 to 6 years is given by the Quetelet index, whereas that for patients aged 6 to 18 years is the Rohrer index.Homozygosity for the achondroplasia gene results in a severe disorder of the skeleton with radiologic changes qualitatively somewhat different from those of the usual heterozygous achondroplasia; early death results from respiratory embarrassment from the small thoracic cage and neurologic deficit from hydrocephalus (Hall et al., 1969). (1988) found that the epiphyseal and growth plate cartilages have a normal appearance histologically, and the major matrix constituents exhibit a normal distribution by immunostaining; however, morphometric investigations have indicated that the growth plate is shorter than normal and that the shortening is greater in homozygous than in heterozygous achondroplasia, suggesting a gene dosage effect. (1983) expressed puzzlement at the striking histologic changes in homozygous achondroplasia despite the virtual absence of changes in the heterozygote.