The oculocerebrocutaneous (Delleman) syndrome.

al-Gazali, L I; Donnai, Dian; Berry, Sadhan; Say, Burhan; Mueller, Rebecca

doi:10.1136/jmg.25.11.773

Cited by 50 publications

(32 citation statements)

References 9 publications

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“…Among the six other female patients reported, one did not undergo brain imaging, 6 one had normal cranial CT, 27 and four had malformations that may fit the classical brain phenotype. [28][29][30][31] These data suggest that OCCS may be X linked.…”

Section: Pathogenesis Of Occsmentioning

confidence: 75%

Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype

Moog

Jones²,

Bird³

et al. 2005

Journal of Medical Genetics

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Background: Oculocerebrocutaneous syndrome (OCCS) is characterised by orbital cysts and anophthalmia or microphthalmia, focal aplastic or hypoplastic skin defects, skin appendages, and brain malformations. The eye and skin abnormalities are well described but the neuropathological features less so. To date, 28 patients with an unequivocal diagnosis of OCCS have been reported, with a preponderance of males. Objective: To evaluate the brain imaging studies, clinical records, photographs, and pathological material of two new and nine previously reported cases of OCCS.Results: There was a consistent pattern of malformations in eight of the 11 cases, consisting of frontal predominant polymicrogyria and periventricular nodular heterotopia, enlarged lateral ventricles or hydrocephalus, agenesis of the corpus callosum sometimes associated with interhemispheric cysts, and a novel mid-hindbrain malformation. The latter consisted of a giant and dysplastic tectum, absent cerebellar vermis, small cerebellar hemispheres in most cases, and a large posterior fossa fluid collection. Conclusions: The mid-hindbrain malformation appears pathognomonic for OCCS. The eye and skin features of OCCS show considerable overlap with several other syndromes, such as encephalocraniocutaneous lipomatosis, oculo-auriculo-vertebral spectrum, and focal dermal hypoplasia, none of which has a comparable pattern of brain malformations. In particular the unique mid-hindbrain malformation also distinguishes OCCS from related syndromes with comparable forebrain anomalies. The pattern of malformation described thus helps in differentiating OCCS from other entities. The mid-hindbrain malformation points to a defect of the mid-hindbrain organiser as the underlying pathogenic mechanism.

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Section: Pathogenesis Of Occsmentioning

confidence: 75%

Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype

Moog

Jones²,

Bird³

et al. 2005

Journal of Medical Genetics

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“…Skeletal involvement includes vertebral abnormalities, rib dysplasia, higharched and cleft palate and cranial thinning. [3] Ocular abnormalities are present with microphtalmia or anophtalmia, epibulbar and orbital cysts with a neuroepithelial hamartomatous structure and palpebral colobomas.…”

Section: Seizures Mental Retardationmentioning

confidence: 99%

“…[4] Many of the clinical features of DS result as a defective closure of primitive embryonic tissues during the fifth to sixth weeks of gestation. [3] The mutated gene/genes causing DS must, in theory, interfere with normal morphogenesis, but are still not known.…”

Section: Seizures Mental Retardationmentioning

confidence: 99%

“…DS shows overlapping features with other conditions with ocular, cutaneous and neurological abnormalities such as Oculoauriculovertebral (Goldenhar) syndrome, Goltz syndrome, Encephalo-cranio-cutaneous lipomatosis and SCALP syndrome (Sebaceous nevus syndrome, CNS malformations, Aplasia cutis congenita, Limbal dermoid and Pigmented giant nevus with neurocutaneous melanosis) [3] [ Table 1]. …”

Section: Seizures Mental Retardationmentioning

confidence: 99%

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Delleman syndrome: Report of a case in an adolescent boy

Nocito¹,

Luna²,

Contardi³

et al. 2012

Indian J Dermatol Venereol Leprol

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“…Other named syndromes with some phenotypic overlap with our case are acrocallosal syndrome [Casamassima et al, 1989;Moeschler et al, 19891, Goldston syndrome (renal-hepatic-pancreatic dysplasia with Dandy-Walker cyst) [Hunter et al, 19911, and oculocerebrocutaneous syndrome (Delleman syndrome) [Al-Gazali et al, 1988;Hoo et al, 19911. They are not discussed further since there are major differences between their phenotypes and that of our case.…”

Section: Discussionmentioning

confidence: 81%

Polydactyly, campomelia, ambiguous genitalia, cystic dysplastic kidneys, and cerebral malformation in a fetus of consanguineous parents: A new multiple malformation syndrome, or a severe form of oral–facial–digital syndrome type IV?

et al. 1994

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We describe a 27-week fetus with occipitoschisis, polydactyly, campomelia, cleft palate, laryngeal dysplasia, ocular colobomata, hepatic fibrosis and intrahepatic cyst, ambiguous genitalia, cystic dysplastic kidneys, and brain malformation. This pattern of abnormalities appears unique. The differential diagnosis is discussed. The parents are first cousins, making autosomal recessive inheritance likely.

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The oculocerebrocutaneous (Delleman) syndrome.

Cited by 50 publications

References 9 publications

Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype

Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype

Delleman syndrome: Report of a case in an adolescent boy

Polydactyly, campomelia, ambiguous genitalia, cystic dysplastic kidneys, and cerebral malformation in a fetus of consanguineous parents: A new multiple malformation syndrome, or a severe form of oral–facial–digital syndrome type IV?

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