Literature DB >> 6492094

Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt: a report of two unrelated cases.

M D King, C L Gummer, J B Stephenson.   

Abstract

Two unrelated children presenting with mental and physical retardation and sulphur deficient brittle hair are reported. These are thought to be further cases of the autosomal recessive neurotrichocutaneous syndrome of Pollitt, of which eight cases have been previously reported.

Entities:  

Mesh：

Year:  1984        PMID： 6492094      PMCID： PMC1049299          DOI： 10.1136/jmg.21.4.286

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  9 in total

1.  "Brittle" hair with short stature, intellectual impairment and decreased fertility: an autosomal recessive syndrome in an Amish kindred.

Authors:  C E Jackson; L Weiss; J H Watson
Journal:  Pediatrics       Date:  1974-08       Impact factor: 7.124

2.  Sibs with mental and physical retardation and trichorrhexis nodosa with abnormal amino acid composition of the hair.

Authors:  R J Pollitt; F A Jenner; M Davies
Journal:  Arch Dis Child       Date:  1968-04       Impact factor: 3.791

3.  The electron histochemistry of cystine--containing proteins in thin transverse sections of human hair.

Authors:  J A Swift
Journal:  J R Microsc Soc       Date:  1968

4.  Intermediate filaments as mechanical integrators of cellular space.

Authors:  E Lazarides
Journal:  Nature       Date:  1980-01-17       Impact factor: 49.962

5.  A syndrome manifested by brittle hair with morphologic and biochemical abnormalities, developmental delay and normal stature.

Authors:  A I Arbisser; C I Scott; R R Howell; P S Ong; H L Cox
Journal:  Birth Defects Orig Artic Ser       Date:  1976

6.  Trichothiodystrophy: sulfur-deficient brittle hair as a marker for a neuroectodermal symptom complex.

Authors:  V H Price; R B Odom; W H Ward; F T Jones
Journal:  Arch Dermatol       Date:  1980-12

7.  Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature (IBIDS syndrome).

Authors:  J L Jorizzo; D J Atherton; R G Crounse; R S Wells
Journal:  Br J Dermatol       Date:  1982-06       Impact factor: 9.302

8.  Lamellar ichthyosis, dwarfism, mental retardation, and hair shaft abnormalities. A link between the ichthyosis-associated and BIDS syndromes.

Authors:  J L Jorizzo; R G Crounse; C E Wheeler
Journal:  J Am Acad Dermatol       Date:  1980-04       Impact factor: 11.527

9.  Neurotrichosis: hair-shaft abnormalities associated with neurological diseases.

Authors:  D L Coulter; T F Beals; R J Allen
Journal:  Dev Med Child Neurol       Date:  1982-10       Impact factor: 5.449
  9 in total
  8 in total

1.  MRI of a very rare hereditary ectodermal dysplasia: PIBI(D)S.

Authors:  A Peserico; P A Battistella; P Bertoli
Journal:  Neuroradiology       Date:  1992       Impact factor: 2.804

2.  Acquired alopecia, mental retardation, short stature, microcephaly, and optic atrophy.

Authors:  R C Hennekam; E G Renckens-Wennen
Journal:  J Med Genet       Date:  1990-10       Impact factor: 6.318

Review 3.  Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations.

Authors:  S Faghri; D Tamura; K H Kraemer; J J Digiovanna
Journal:  J Med Genet       Date:  2008-06-25       Impact factor: 6.318

4.  Trichothiodystrophy, xeroderma pigmentosum and PIBI(D)S syndrome.

Authors:  A Rebora; F Crovato
Journal:  Hum Genet       Date:  1988-01       Impact factor: 4.132

5.  Central nervous system dysmyelination in PIBI(D)S syndrome: a further case.

Authors:  P A Battistella; A Peserico
Journal:  Childs Nerv Syst       Date:  1996-02       Impact factor: 1.475

6.  Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity.

Authors:  M Stefanini; P Lagomarsini; C F Arlett; S Marinoni; C Borrone; F Crovato; G Trevisan; G Cordone; F Nuzzo
Journal:  Hum Genet       Date:  1986-10       Impact factor: 4.132

7.  Trichothiodystrophy without photosensitivity. Biochemical, ultrastructural and DNA repair studies.

Authors:  A Fois; P Balestri; S Calvieri; M Zampetti; S Giustini; M Stefanini; P Lagomarsini
Journal:  Eur J Pediatr       Date:  1988-05       Impact factor: 3.183

8.  A Japanese girl with mild xeroderma pigmentosum group D neurological disease diagnosed using whole-exome sequencing.

Authors:  Takayuki Yokoi; Yumi Enomoto; Tomoko Uehara; Kenjiro Kosaki; Kenji Kurosawa
Journal:  Hum Genome Var       Date:  2020-08-07
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.