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Literature DB >> 7131000

Joubert-Boltshauser syndrome with polydactyly in siblings.

J Egger, M H Bellman, E M Ross, M Baraitser.

Abstract

Two siblings are described with clinical features of the Joubert-Boltshauser syndrome. Both had polydactyly and one had fleshy tumours of the tongue. Computed tomography of the brain showed hypoplasia of the cerebellar vermis, associated in one case with a cyst of the fourth ventricle.

Entities: Disease

Mesh：

Year: 1982 PMID： 7131000 PMCID： PMC1083168 DOI： 10.1136/jnnp.45.8.737

Source DB: PubMed Journal: J Neurol Neurosurg Psychiatry ISSN： 0022-3050 Impact factor: 10.154

15 in total

1. Vermian agenesis and unsegmented midbrain tectum. Case report.

Authors: J A Calogero
Journal: J Neurosurg Date: 1977-10 Impact factor: 5.115

2. [Connections between respiratory regulation and paradoxical sleep in a patient with Joubert's syndrome (author's transl)].

Authors: D Dralle; E Schmidt-Sommerfeld
Journal: Klin Padiatr Date: 1979-01 Impact factor: 1.349

3. The Dandy-Walker syndrome. A clinicopathological study based on 28 cases.

Authors: M N Hart; N Malamud; W G Ellis
Journal: Neurology Date: 1972-08 Impact factor: 9.910

4. Syndrome characterized by lingual malformation, polydactyly, tachypnea, and psychomotor retardation (Mohr syndrome).

Authors: K H Gustavson; A Kreuger; P O Petersson
Journal: Clin Genet Date: 1971 Impact factor: 4.438

5. Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation.

Authors: M Joubert; J J Eisenring; J P Robb; F Andermann
Journal: Neurology Date: 1969-09 Impact factor: 9.910

6. Oral-facial-digital syndrome, with polycystic kidneys and liver: pathological and cytogenetic studies.

Authors: C C Tucker; S C Finley; E S Tucker; W H Finley
Journal: J Med Genet Date: 1966-06 Impact factor: 6.318

7. Uncommon syndromes of cerebellar vermis aplasia. II: Tecto-cerebellar dysraphia with occipital encephalocele.

Authors: R L Friede
Journal: Dev Med Child Neurol Date: 1978-12 Impact factor: 5.449

8. Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome.

Authors: R L Friede; E Boltshauser
Journal: Dev Med Child Neurol Date: 1978-12 Impact factor: 5.449

9. Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis.

Authors: E Boltshauser; W Isler
Journal: Neuropadiatrie Date: 1977-02

10. Polycystic kidneys associated with malformations of the brain, polydactyly, and other birth defects in newborn sibs. A lethal syndrome showing the autosomal-recessive pattern of inheritance.

Authors: K Fried; E Liban; M Lurie; S Friedman; S H Reisner
Journal: J Med Genet Date: 1971-09 Impact factor: 6.318

13 in total

1. A case of cranial meningocele associated with Joubert syndrome.

Authors: T Suzuki; M Hakozaki; N Kubo; K Kuroda; A Ogawa
Journal: Childs Nerv Syst Date: 1996-05 Impact factor: 1.475

2. A child with delayed milestones and interesting findings on MR.

Authors: Sanwar Agrawal
Journal: BMJ Case Rep Date: 2010-11-05

3. Genetic aspects of congenital cerebellar ataxia.

Authors: D Kumar
Journal: Indian J Pediatr Date: 1986 Nov-Dec Impact factor: 1.967

4. The orofaciodigital (OFD) syndromes.

Authors: M Baraitser
Journal: J Med Genet Date: 1986-04 Impact factor: 6.318

5. Vermian agenesis without posterior fossa cyst.

Authors: C Adamsbaum; V Moreau; C Bulteau; J Burstyn; F Lair Milan; G Kalifa
Journal: Pediatr Radiol Date: 1994

6. Joubert syndrome with polydactyly and optic coloboma in two sibs.

Authors: A S Kher; A Chattopadhyay; A Divekar; K Khambekar; B A Bharucha
Journal: Indian J Pediatr Date: 1994 Nov-Dec Impact factor: 1.967

7. The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.

Authors: Lekbir Baala; Stephane Romano; Rana Khaddour; Sophie Saunier; Ursula M Smith; Sophie Audollent; Catherine Ozilou; Laurence Faivre; Nicole Laurent; Bernard Foliguet; Arnold Munnich; Stanislas Lyonnet; Remi Salomon; Ferechte Encha-Razavi; Marie-Claire Gubler; Nathalie Boddaert; Pascale de Lonlay; Colin A Johnson; Michel Vekemans; Corinne Antignac; Tania Attie-Bitach
Journal: Am J Hum Genet Date: 2006-11-15 Impact factor: 11.025