Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The diagnosis of acrodysostosis has been differentiated from that of pseudohypoparathyroidism or pseudo-pseudohypoparathyroidism by the absence of endocrine abnormalities, more generalized osseous abnormalities, and a characteristic facial appearance. Two cases are presented which fulfill all of the major features of acrodysostosis: peripheral dysostosis, nasal hypoplasia (pug nose), and mental retardation. The first case had all the metabolic abnormalities of pseudohypoparathyroidism; the second case had urinary cyclic adenosine-3',5'-monophosphate findings suggestive of pseudo-pseudohypoparathyroidism. Therefore acrodysostosis cannot be differentiated from pseudohypoparathyroidism or pseudopseudohypoparathyroidism on clinical and radiologic features only.
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PMID:Acrodysostosis coinciding with pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism. 18 48

Acrodysostosis--a rare congenital malformation syndrome--is described in a 4 1/2 year old boy with peripheral dysostosis, nasal hypoplasia, mental retardation (PNM syndrome) and impaired hearing. The differential diagnosis includes pseudo (PH)--and pseudo-pseudohypoparathyroidism (PPH). The patient described here had severe peripheral dysostosis, typical of PNM as opposed to the above-mentioned conditions with only moderate peripheral dysostosis. Furthermore, there were no soft tissue calcifications and no intracranial calcification as can be seen in PH and PPH. Laboratory findings were normal.
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PMID:Acrodysostosis. A case of peripheral dysostosis, nasal hypoplasia, mental retardation and impaired hearing. 64 65

Two Japanese siblings, a 2-year-old girl and a 7-month-old boy, had a syndrome of mental retardation, severe nasal hyp9plasia, peripheral dysostosis, and blue eyes. The mother showed nasal hyp9plasia of lesser degree and a mild form of peripheral dysostosis. This disorder bears a striking similarity to acrodysostosis, but in view of certain novel features its relationship to the disease is uncertain. The mode of inheritance could be either dominant with variable expressivity or autosomal recessive.
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PMID:Familial occurrence of a syndrome with mental retardation, nasal hypoplasia, peripheral dysostosis, and blue eyes in Japanese siblings. 66 7

Acrodysostosis is a rare syndrome characterized by growth retardation, peripheral dysostosis and mental deficiency. X-rays reveal generalized shortening of metacarpals, metatarsals and phalanges, hyperplasia of the first ray of the feet and premature skeletal maturation. Occasionally abnormal interpedicular spinal spaces, increased mandibular angle and hearing loss have been observed. We report a 19-year-old woman and her daughter examined at birth and subsequently at 6 years of age. The clinical and radiological characteristics are those of acrodysostosis. The syndrome is easily recognized at birth. The generalized corporal shortening is progressive and could be due to premature closing of epiphyses. The finding of an affected mother and her daughter support the postulate that acrodysostosis is inherited as an autosomal dominant syndrome.
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PMID:Acrodysostosis in two generations: an autosomal dominant syndrome. 186 Feb 54

Two cases of acrodysostosis syndrome in a brother and sister are reported. The parents and other siblings were unaffected. Features of this syndrome include extremely short, broad metacarpals, metatarsals, and phalanges, nasal hypoplasia, short stature, and mental deficiency. Previously published familial cases of acrodysostosis syndrome are consistent with autosomal dominant transmission, whereas the cases reported herein suggest other genetic mechanisms including recessive autosomal transmission, unstable mutation, and germ cell mosaicism, the latter being the most attractive hypothesis.
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PMID:[Acrodysostosis in a sister and brother born to normal parents]. 200 31

We report a 13-year-old boy with peripheral dysostosis, nasal hypoplasia, brachydactyly and a tracheal stenosis of unknown origin. Acrodysostosis is usually caused by an autosomal gene, but in this case it was probably due to a new mutation. The frequently described mental retardation is not essential feature. Ectopic calcification has not been previously reported.
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PMID:[Acrodysostosis: an autosomal inherited form of peripheral dysostosis]. 272 79

We report on a 13-yr-old boy with acrodysostosis, a review of 30 cases in the literature, and metacarpophalangeal pattern profile (MCPP) analysis. The prominent manifestations (present in greater than 75% of cases) of this condition include nasal and maxillary hypoplasia, peripheral dysostosis, first ray hyperplasia of the foot, acromesomelic brachymelia, decreased interpedicular distance, advanced skeletal maturation and mental retardation. Results of chromosome studies have been normal. An autosomal dominant inheritance pattern was reported in two families. Maternal and paternal ages were 2 and 3 yr, respectively, above the average age of the general parent population, which suggests that advanced parental age may be a factor in the cause of this condition. A characteristically abnormal MCPP was found in our patient and in 16 additional cases studied from the literature. A mean MCPP was developed for the syndrome. MCPP analysis may be useful as a diagnostic tool in patients suspected to have acrodysostosis.
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PMID:Acrodysostosis: report of a 13-year-old boy with review of literature and metacarpophalangeal pattern profile analysis. 305 90

Acrodysostosis is an uncommon skeletal dysplasia associated with nasal hypoplasia, midface deficiency, severe brachydactyly, and varying degrees of hearing loss and mental retardation. Previous publications have suggested that it may be difficult to distinguish acrodystostosis from pseudohypoparathyroidism on clinical grounds, but acrodysostosis does appear to have distinct clinical and radiologic findings. Spinal stenosis is an underappreciated risk in acrodysostosis, despite the reported loss of normal caudal widening of the lumbar interpediculate distance on AP spine radiographs in the original report of this disorder by Robinow et al., with confirmation of these radiographic findings by Butler et al. We report two sporadic cases of acrodysostosis, one of which required decompressive laminectomy for symptomatic spinal stenosis, and review 11 cases of acrodysostosis from 9 families that were submitted to the International Skeletal Dysplasia Registry. The objective of this report is to determine the frequency and severity of spinal stenosis in patients with acrodysostosis and to summarize the clinical and radiographic findings of acrodysostosis in an effort to distinguish acrodysostosis clearly from pseudohypoparathyroidism. The pattern of brachydactyly differs between these two conditions, and varying degrees of spinal stenosis are characteristic of acrodysostosis. Both our index patients with acrodysostosis had normal bioactivity of the alpha subunit of the Gs protein, therefore indicating that acrodysostosis has a different pathogenesis from pseudohypoparathyroidism. Furthermore, single-strand confirmational polymorphism (SSCP) analysis failed to demonstrate any confirmational alterations in the coding exons of the Gs alpha gene. These radiographic and laboratory findings substantiate that acrodysostosis is clinically different from pseudohypoparathyroidism and that it is necessary to follow patients with acrodysostosis for signs of spinal stenosis.
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PMID:Radiographic findings and Gs-alpha bioactivity studies and mutation screening in acrodysostosis indicate a different etiology from pseudohypoparathyroidism. 1216 61

We describe a two and half year old male child with acrodysostosis, presenting with nasal hypoplasia, peripheral dysostosis (gross shortening of hands and feet), cone-shaped epiphysis, advanced bone age, and mental retardation. He and his mother also had bilateral first ray hyperplasia of the feet thereby expressing the autosomal dominant inheritance pattern.
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PMID:Acrodysostosis: autosomal dominant transmission. 1614 86

Acrodysostosis is a rare congenital anomaly syndrome characterized by peculiar facial appearance with a small nose and an open mouth, short stature, short metacarpotarsal, and phalangeal bones with cone-shaped epiphyses, advanced bone-age, and variable degrees of mental retardation. It is most likely that the disease is inherited in an autosomal dominant mode, its pathogenesis has remained unknown. We report a 4-year-old Japanese girl who suffered from acrodysostosis with unusual iridal color. The color of patient's irides was gray-bluish in her infancy but became light-brownish by age 4 years. Of eight Japanese patients reported, four had abnormal eye color: a 7-month-old boy with blue irides and his 2-year-old elder sister with light-blue eyes a 6-year-old girl with gray-brownish irides, and a 4-year-old girl (present case) with blue-brownish irides. The degree of iris pigmentation in acrodysostosis patients may change with age. It is likely that the putative gene for acrodysostosis might play a role not only in remodeling of bones but also in iris pigmentation.
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PMID:Acrodysostosis with unusual iridal color changing with age. 1744 Sep 34


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