Literature DB >> 2738902

Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolf's syndrome.

M G Harbord1, M Baraitser, J Wilson.   

Abstract

The association of microcephaly, mental retardation, cataracts, and hypogonadism is described in sibs (brother and sister) of consanguineous parents. These features are consistent with a diagnosis of Martsolf's syndrome. In addition, one sib had a cardiomyopathy while the other had cardiac failure.

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Year:  1989        PMID： 2738902      PMCID： PMC1015627          DOI： 10.1136/jmg.26.6.397

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


  7 in total

1.  Martsolf syndrome in a brother and sister: clinical features and pattern of inheritance.

Authors:  R C Hennekam; A G van de Meeberg; J M van Doorne; P F Dijkstra; J B Bijlsma
Journal:  Eur J Pediatr       Date:  1988-06       Impact factor: 3.183

2.  Editorial comment: variability in the Smith-Lemli-Opitz syndrome: overlap with the Meckel syndrome.

Authors:  R B Lowry
Journal:  Am J Med Genet       Date:  1983-03

3.  Two brothers with Martsolf's syndrome.

Authors:  J M Sánchez; C Barreiro; H Freilij
Journal:  J Med Genet       Date:  1985-08       Impact factor: 6.318

4.  Familial juvenile nephronophthisis, Jeune's syndrome, and associated disorders.

Authors:  M D Donaldson; A A Warner; R S Trompeter; G B Haycock; C Chantler
Journal:  Arch Dis Child       Date:  1985-05       Impact factor: 3.791

5.  Severe mental retardation, cataracts, short stature, and primary hypogonadism in two brothers.

Authors:  J T Martsolf; A G Hunter; J C Haworth
Journal:  Am J Med Genet       Date:  1978

6.  Oculo-palato-cerebral dwarfism: a new syndrome.

Authors:  M Frydman; A Kauschansky; I Leshem; H Savir
Journal:  Clin Genet       Date:  1985-04       Impact factor: 4.438

7.  Martsolf's syndrome in a non-Jewish boy.

Authors:  P Strisciuglio; M Costabile; M Esposito; S Di Maio
Journal:  J Med Genet       Date:  1988-04       Impact factor: 6.318
  7 in total
  7 in total

1.  Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.

Authors:  J M Graham ; K Anyane-Yeboa; A Raams; E Appeldoorn; W J Kleijer; V H Garritsen; D Busch; T G Edersheim; N G Jaspers
Journal:  Am J Hum Genet       Date:  2001-07-03       Impact factor: 11.025

2.  Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene.

Authors:  L B Meira; J M Graham; C R Greenberg; D B Busch; A T Doughty; D W Ziffer; D M Coleman; I Savre-Train; E C Friedberg
Journal:  Am J Hum Genet       Date:  2000-03-15       Impact factor: 11.025

Review 3.  The carbohydrate-deficient glycoprotein syndromes: an overview.

Authors:  J Jaeken; H Carchon
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

4.  Novel RAB3GAP1 Mutation in the First Tunisian Family With Warburg Micro Syndrome.

Authors:  Nesrine Kerkeni; Maher Kharrat; Faouzi Maazoul; Hela Boudabous; Ridha M'rad; Mediha Trabelsi
Journal:  J Clin Neurol       Date:  2022-02-14       Impact factor: 3.077

5.  Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome.

Authors:  Irene A Aligianis; Neil V Morgan; Marina Mione; Colin A Johnson; Elisabeth Rosser; Raoul C Hennekam; Gill Adams; Richard C Trembath; Daniela T Pilz; Neil Stoodley; Anthony T Moore; Steve Wilson; Eamonn R Maher
Journal:  Am J Hum Genet       Date:  2006-02-14       Impact factor: 11.025

Review 6.  Hypogonadotropic hypogonadism due to variants in RAB3GAP2: expanding the phenotypic and genotypic spectrum of Martsolf syndrome.

Authors:  Wanxue Xu; Lacey Plummer; Richard Quinton; Francesca Swords; William F Crowley; Stephanie B Seminara; Ravikumar Balasubramanian
Journal:  Cold Spring Harb Mol Case Stud       Date:  2020-06-12

7.  ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.

Authors:  Mark T Handley; Kaalak Reddy; Jimi Wills; Elisabeth Rosser; Archith Kamath; Mihail Halachev; Gavin Falkous; Denise Williams; Phillip Cox; Alison Meynert; Eleanor S Raymond; Harris Morrison; Stephen Brown; Emma Allan; Irene Aligianis; Andrew P Jackson; Bernard H Ramsahoye; Alex von Kriegsheim; Robert W Taylor; Andrew J Finch; David R FitzPatrick
Journal:  PLoS Genet       Date:  2019-03-11       Impact factor: 5.917
  7 in total

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