Literature DB >> 3409931

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

R C Hennekam1, A G van de Meeberg, J M van Doorne, P F Dijkstra, J B Bijlsma.   

Abstract

A brother and sister with Martsolf syndrome are reported. The main characteristics of the syndrome are mental retardation, short stature, cataracts, hypogonadism and craniofacial anomalies including microcephaly, maxillary retrusion, pouting mouth, malaligned teeth and mildly dysplastic pinnae. The metacarpal and phalangeal bones are short. The occurrence of Martsolf syndrome in sibs of opposite sex suggests autosomal recessive inheritance.

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Year:  1988        PMID： 3409931     DOI： 10.1007/bf00441986

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  24 in total

1.  A combination of congenital cataract and cerebral palsy in a brother and a sister.

Authors:  J BLUMEL; E B EVANS; G W EGGERS
Journal:  Arch Ophthalmol       Date:  1960-02

2.  Waardenburg-like features with cataracts, small head size, joint abnormalities, hypogonadism, and osteosarcoma.

Authors:  D M Parry; A W Safyer; J J Mulvihill
Journal:  J Med Genet       Date:  1978-02       Impact factor: 6.318

3.  A syndrome of dwarfism, mental retardation, lens opacities, nystagmus, strabismus, cryptorchidism and absent patellae. Report of 2 cases in siblings.

Authors:  S D Singh; B C Chhaparwal; R P Dhanda; J N Pohowalla
Journal:  Indian J Pediatr       Date:  1970-05       Impact factor: 1.967

4.  A newly recognized dominantly inherited syndrome: short stature, ocular and articular anomalies, mental retardation.

Authors:  J Matsoukas; S Liarikos; A Giannikas; Z Agoropoulos; G Papachristou; P Soukakos
Journal:  Helv Paediatr Acta       Date:  1973-11

5.  Hereditary myopathy, oligophrenia, cataract, skeletal abnormalities and hypergonadotropic hypogonadism; a new syndrome.

Authors:  P O Lundberg
Journal:  Eur Neurol       Date:  1973       Impact factor: 1.710

6.  Metacarpophalangeal length in the evaluation of skeletal malformation.

Authors:  S M Garn; K P Hertzog; A K Poznanski; J M Nagy
Journal:  Radiology       Date:  1972-11       Impact factor: 11.105

7.  Syndrome of pigmentary retinal degeneration, cataract, microcephaly, and severe mental retardation.

Authors:  S A Mirhosseini; L B Holmes; D S Walton
Journal:  J Med Genet       Date:  1972-06       Impact factor: 6.318

8.  The syndrome of retinal pigmentary degeneration, microcephaly, and severe mental retardation (Mirhosseini-Holmes-Walton syndrome): report of two patients.

Authors:  H M Mendez; G A Paskulin; C Vallandro
Journal:  Am J Med Genet       Date:  1985-10

9.  Arachnodactyly, aminoaciduria, congenital cataracts, cerebellar ataxia, and delayed developmental milestones.

Authors:  P A Bhaskar; K Jagannathan; K Valmikinathan
Journal:  J Neurol Neurosurg Psychiatry       Date:  1974-12       Impact factor: 10.154

10.  Endocrine studies in patients with advanced hypospadias.

Authors:  T D Allen; J E Griffin
Journal:  J Urol       Date:  1984-02       Impact factor: 7.450
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  6 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.  Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolf's syndrome.

Authors:  M G Harbord; M Baraitser; J Wilson
Journal:  J Med Genet       Date:  1989-06       Impact factor: 6.318

3.  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

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
  6 in total

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