Cerebro-ocular Dysplasia-Muscular Dystrophy Syndrome

Heggie, Pamela

doi:10.1001/archopht.1987.01060040090040

Cited by 44 publications

(20 citation statements)

References 16 publications

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“…PHPV generally is isolated and unilateral; the incidence is unknown, but it is not rare. It has been reported in association with numerous genetic syndromes, including oculo-dento-osseous dysplasia [Traboulsi et al, 1986], protein C de®ciency [Hermsen et al, 1990], Rieger anomaly [Storimans et al, 1989], Aicardi syndrome [Weissgold et al, 1995], osteoporosis-pseudoglioma syndrome [Steichen-Gersdorf et al, 1997], tuberous sclerosis [Milot et al, 1999], cerebro-ocular dysplasia±muscular dystrophy syndrome [Heggie et al, 1987], and oculo-palatal-cerebral syndrome [Frydman et al, 1985]. Familial occurrences have been reported in dizygotic twins [Wang and Phillips, 1973], male twins [Yu and Chang, 1997], two male siblings [Menchini et al, 1987], and a mother and son [Lin et al, 1990].…”

Section: Discussionsupporting

confidence: 42%

Oculo‐palatal‐cerebral syndrome: A second case

et al. 2001

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Oculo-palato-cerebral syndrome is an extremely rare disorder consisting of low birth weight, microcephaly, short stature, persistent hyperplastic primary vitreous, microphthalmia, large ears, small hands and feet, cleft palate, joint hypermobility, developmental delay, and cerebral atrophy. There has been one report of a consanguineous family with three affected children, suggesting autosomal recessive inheritance. We report on the second case of this disorder. Our patient, a 2-year-old boy, had growth delay, microcephaly, bilateral persistent hyperplastic primary vitreous with right microphthalmia, long ears with thickened helices, small hands and feet, highly arched palate, joint hypermobility, hypoplastic nails, frontal cerebral atrophy and thinning of the corpus callosum on brain magnetic resonance imaging, and mild developmental delay. He has much milder features than those seen in the previously reported cases.

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Section: Discussionsupporting

confidence: 42%

Oculo‐palatal‐cerebral syndrome: A second case

et al. 2001

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“…Dobyns et al [19891 have reviewed 42 cases reported until 1987 and 21 of their own. They proposed the name Walker-Warburg syndrome while also suggesting that the cerebro-ocular-muscular dystrophy (COD-MD) [Heggie et al, 1987;Towfighi et al, 19841 and the muscle-eye-brain disease (MEB) are the same as the WWS.…”

Section: Pathologic Findingssupporting

confidence: 41%

Walker‐Warburg syndrome: Report of three affected sibs

et al. 1994

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Walker-Warburg syndrome (WWS) is a lethal, autosomal recessive disorder characterized by Type II lissencephaly, retinal malformation, cerebellar malformation, and congenital muscular dystrophy. We report on 3 sibs with WWS born to a consanguineous couple. The fetal hydrocephalus associated with this syndrome, while not consistent or necessary for diagnosis, is the key manifestation for its prenatal detection. These sibs illustrate the importance of a careful search for associated malformation(s) in a fetus or newborn infant with hydrocephalus and the potential pitfalls of accurate genetic risk estimation in families of such propositi.

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“…Tel. : ( + 31-80) 614894; Fax: ( + 31-80) 540576, CMD with (sub)normal intelligence, Fukuyama type of CMD (F-CMD) with cerebral abnormalities and severe mental retardation (Fukuyama et al, I960, 1981), and "muscle-ey e-brain disease" (MEB-D) (Raitta et al, 1978;Santavuori et aL, 1989;Leyten et al, 1991Leyten et al, , 1992 or the "cerebro-ocular dysplasia-muscular dystrophy syndrome1 ' (COD-MD) (Towfighi et aL, 1984;Heggie et al,, 1987;Federico et al,, 1988) with severe mental retardation and ocular malformations. The WalkerWarburg syndrome (WWS) is an autosomal recessive disorder characterized by type II lissencephaly, cere bellar malformation, characteristic eye malformations and congenital muscular dystrophy (McKusick, 1988).…”

Section: Introductionmentioning

confidence: 42%

White matter abnormalities in congenital muscular dystrophy

Leyten

Gabreëls

Renier

et al. 1995

Journal of the Neurological Sciences

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Central nervous system (CNS) characteristics were examined in seventeen patients with autosomal recessive classic or " pure5 5 congenital muscular dystrophy (C M D ). In three patients, neuroradiological examination (C T /M R I) indicated hypodense white matter areas. Two out o f these three patients had epilepsy (seizures and epileptic discharges on their E E G ). Only two of the remaining patients had epileptic E E G discharges, but without clinical seizures. By comparing our results to data in the literature, we could conclude that the classic or " pure" form of C M D can be subdivided into two subtypes, i.e. those with and those without white matter hypodensities. A mild form of epilepsy or an epileptic predisposition on E E G can be part of the subtype with white matter hypodensities.

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Cerebro-ocular Dysplasia-Muscular Dystrophy Syndrome

Cited by 44 publications

References 16 publications

Oculo‐palatal‐cerebral syndrome: A second case

Oculo‐palatal‐cerebral syndrome: A second case

Walker‐Warburg syndrome: Report of three affected sibs

White matter abnormalities in congenital muscular dystrophy

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