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Target Concepts:
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Query: UMLS:C0025362 (
mental retardation
)
15,878
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Trichorhinophalangeal syndrome
(TRPS) type III is a newly defined clinical entity. This symptom complex is inherited as an autosomal dominant trait and clinically characterized by growth retardation, craniofacial abnormalities, severe brachydactyly and sparse hair. In addition, absence of
mental retardation
and cartilaginous exostoses are required for the diagnosis of TRPS III. To further delineate this newly recognized entity, we report on a patient from a Turkish family segregating TRPS III in 7 family members. The patient had a very short stature (147 cm, < 3rd standard deviation), a thin upper lip and a prominent lower lip, a pear-shaped nose, stubby fingers and toes with cone-shaped epiphyses and sparse scalp hair. Scanning electron microscopy findings and results of energy-dispersive X-ray microanalysis are presented in such a patient for the first time.
...
PMID:Trichorhinophalangeal syndrome type III. 899 67
A 32-year-old short statured woman with alopecia, typical facies, shortened angulated fingers and toes with
Trichorhinophalangeal syndrome
type I (TRPS I) is reported. The absence of exostosis and
mental retardation
rule out TRPS II. The absence of generalized shortness of all phalanges, metacarpals and metatarsals distinguish it from TRPS III. Possibly the various types of
Trichorhinophalangeal syndrome
are genetically identical but have a varied clinical spectrum.
...
PMID:Trichorhinophalangeal syndrome type I. 973 70
Background.
Trichorhinophalangeal syndrome
(TRPS) is an autosomal dominant skeletal dysplasia caused by defects involving the TRPS1 gene. Three types (TRPSs I, II, and III) have been described, exhibiting the common triad of hair, craniofacial, and skeletal abnormalities. TRPS II includes the additional characteristics of
mental retardation
and multiple exostoses. Case Report. We describe a sporadic case of TRPS type I in a child with two novel nonsense pathogenic mutations in the TRPS1 gene, both in heterozygosity-c.1198C>T (p. Gln400X) and c.2086C>T (p.Arg696X). None of these mutations were found in her parents. Clinical presentation included typical hair and facial features, as well as slight skeletal abnormalities. Discussion. There is a wide variability in clinical expression of TRPS I. Manifestations of the disease can be subtle, yet skeletal anomalies imply that TRPS I is more than an esthetic problem. Clinical and genetic diagnosis allows adequate followup and timely therapeutic procedures. When a single mutation was sufficient for the onset of the disease, our patient presented two different ones.
...
PMID:Trichorhinophalangeal Syndrome Type I: A Patient with Two Novel and Different Mutations in the TRPS1 Gene. 2369 75
