Tricho‐rhino‐phalangeal syndrome type I with severe mental retardation due to interstitial deletion of 8q23.3–24.13

Yamamoto, Yoshihiko; Oguro, Noriko; Miyao, Masutomo; Yamaguchi, Masayoshi

doi:10.1002/ajmg.1320320128

Cited by 30 publications

(16 citation statements)

References 10 publications

(2 reference statements)

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“…Type II TRPS presents multiple exostoses as well as mental retardation, and it is due to a wide deletion extending from 8q24.11 to 8q24.13, whereas type 1 is caused by an even smaller deleted segment [Buhler et al, 1980]. Mental retardation was also described in type I [Yamamoto et al, 1989;Hamers et al, 1990], related to the size of the interstitial 8q deletion. Type III trichorhinophalangeal differs from type 1 in the presence of severe brachydactyly and severe short stature, and it is caused by a specific class of mutations in the TRPS1 gene [Lüdecke et al, 2001].…”

Section: Introductionmentioning

confidence: 93%

Partial growth hormone deficiency and changed bone quality and mass in type I trichorhinophalangeal syndrome

Stagi

Bindi

Galluzzi

et al. 2008

American J of Med Genetics Pt A

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The trichorhinophalangeal syndromes (TRPSs) are syndromes due to haploinsufficiency of genes in the chromosome 8q24.12 region. Type I TRPS is characterized by typical facial features including sparse, brittle and fine hair, bulbous nose, and a long philtrum, as well as skeletal abnormalities. Growth retardation is a feature frequently found in these patients, who commonly are of short stature; however, only one case with growth hormone deficiency has been described in a TRPS patient and that patient had type II TRPS. Skeletal morphological abnormalities have been studied, but investigation of bone metabolism and quality in this kind of patients are not available. In this report we describe two cases of type I TRPS with partial growth hormone deficiency and significant bone mass and quality impairment, which was unresponsive to GH treatment.

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Section: Introductionmentioning

confidence: 93%

Partial growth hormone deficiency and changed bone quality and mass in type I trichorhinophalangeal syndrome

Stagi

Bindi

Galluzzi

et al. 2008

American J of Med Genetics Pt A

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“…Seizures occur in a minority of cases (106)(107)(108)(109)(110)(111)(112)(113). Seizures usually began in infancy (range, 7 days-13 years).…”

Section: Chromosomementioning

confidence: 99%

“…Seizures usually began in infancy (range, 7 days-13 years). One case had absences with a "disorganized EEG" (112), and one had febrile convulsions with focal epileptiform abnormalities on EEG (109). A 7-dayold boy had left-sided partial seizures, and his EEG showed frontocentral epileptiform discharges (107).…”

Section: Chromosomementioning

confidence: 99%

Chromosomal Abnormalities and Epilepsy: A Review for Clinicians and Gene Hunters

et al. 2002

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Summary:Purpose: We analyzed databases on chromosomal anomalies and epilepsy to identify chromosomal regions where abnormalities are associated with clinically recognizable epilepsy syndromes. The expectation was that these regions could then be offered as targets in the search for epilepsy genes.Methods: The cytogenetic program of the Oxford Medical Database, and the PubMed database were used to identify chromosomal aberrations associated with seizures and/or EEG abnormalities. The literature on selected small anomalies thus identified was reviewed from a clinical and electroencephalographic viewpoint, to classify the seizures and syndromes according to the current International League Against Epilepsy (ILAE) classification.Results: There were 400 different chromosomal imbalances described with seizures or EEG abnormalities. Eight chromosomal disorders had a high association with epilepsy. These comprised: the Wolf-Hirschhorn (4p-) syndrome, MillerDieker syndrome (del 17p13.3), Angelman syndrome (del 15q11-q13), the inversion duplication 15 syndrome, terminal deletions of chromosome 1q and 1p, and ring chromosomes 14 and 20. Many other segments had a weaker association with seizures. The poor quality of description of the epileptology in many reports thwarted an attempt to make precise karyotypephenotype correlations.Conclusions: We identified certain chromosomal regions where aberrations had an evident association with seizures, and these regions may be useful targets for gene hunters. New correlations with specific epilepsy syndromes were not revealed. Clinicians should continue to search for small chromosomal abnormalities associated with specific epilepsy syndromes that could provide important clues for finding epilepsy genes, and the epileptology should be rigorously characterized.

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“…Giedion [3] described a case with complete baldness in childhood. The hair is usually of a light color and the patients almost never need a haircut [4, 7 -9 , 11, 16, 19-24], although there are some reports of patients with practically normal hair growth [4,6,25,26]. McCloud and Solomon [16] showed a reduced number of hair follicles in scalp biopsies.…”

Section: Discussionmentioning

confidence: 99%

“…For the TRPS, an autosomal dominant mode of inheritance with variable expression (MIM 190350) as well as a recessive form of inheritance (MIM 275500) have been suggested |4. 14,28], Patients who additionally show multiple cartilagi nous or bony exostoses are classified as TRPS type II or the Langer-Giedion syndrome [19,26], However, it is contro versial if TRPS I and II really present two separate entities [26], In some patients, a lesion of the long arm of chromo some 8 has been described [7,23,25,26,29], and it has been proposed that TRPS, in analogy with the Prader-Willi syndrome (MIM 176270), could be divided into a subtype with and one without a structural chromosomal lesion [29]. Chromosomal analysis was not performed in our patient.…”

Section: Discussionmentioning

confidence: 99%

Trichorhinophalangeal Syndrome

Böni

Böni²,

Tsambaos

et al. 1995

Dermatology

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Trichorhinophalangeal syndrome (TRPS) comprises a distinctive combination of hair, facial and bony abnormalities with variable expression. A 20-year-old man with TRPS was seen because of marked androgenetic alopecia. Scanning electron-microscopic studies of the hair revealed flattened hair with an elliptoid transverse section pattern. Mechanical behavior of the hair was abnormal with a significant increase in the viscous parameter, indicating a decreased intermolecular bridging within the keratin matrix. The dermatologist confronted with premature or marked alopecia in young adults should always consider the possibility of an underlying congenital syndrome involving the hair and prompt further investigation.

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Tricho‐rhino‐phalangeal syndrome type I with severe mental retardation due to interstitial deletion of 8q23.3–24.13

Cited by 30 publications

References 10 publications

Partial growth hormone deficiency and changed bone quality and mass in type I trichorhinophalangeal syndrome

Partial growth hormone deficiency and changed bone quality and mass in type I trichorhinophalangeal syndrome

Chromosomal Abnormalities and Epilepsy: A Review for Clinicians and Gene Hunters

Trichorhinophalangeal Syndrome

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