Delleman (Oculocerebrocutaneous) Syndrome: Case report

Ortiz-Basso, Tomás; Vigo, Rodolfo Luis; Iacouzzi, S.; Prémoli, Jorge

doi:10.4103/0301-4738.136277

Cited by 9 publications

(10 citation statements)

References 6 publications

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“…General information: Characterized by the triad of eye, brain, and skin malformations. About 40 cases reported so far …”

Section: Glossarymentioning

confidence: 99%

“…Skin defects include focal skin aplasia or hypoplasia and alopecia. The formation of cutaneous appendages in the periocular region is characteristic . Craniofacial clefts and urogenital anomalies possible …”

Section: Glossarymentioning

confidence: 99%

“…About 40 cases reported so far. 358 Somatic findings: Eye defects consist of orbital cysts and anophthalmia or microphthalmia. 359 Skin defects include focal skin aplasia or hypoplasia and alopecia.…”

Section: Lowe Oculocerebrorenal Syndrome (Omim: 309000)mentioning

confidence: 99%

“…The formation of cutaneous appendages in the periocular region is characteristic. 358 Craniofacial clefts and urogenital anomalies possible. 359 Skeleton: Rib dysplasia, skull defects, vertebral anomalies, and congenital hip dislocation.…”

Section: Lowe Oculocerebrorenal Syndrome (Omim: 309000)mentioning

confidence: 99%

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Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

Wagner

Poretti

Benson

et al. 2016

Journal of Neuroimaging

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Genetic skeletal disorders (GSDs) are a heterogeneous group characterized by an intrinsic abnormality in growth and (re-)modeling of cartilage and bone. A large subgroup of GSDs has additional involvement of other structures/organs beside the skeleton, such as the central nervous system (CNS). CNS abnormalities have an important role in long-term prognosis of children with GSDs and should consequently not be missed. Sensitive and specific identification of CNS lesions while evaluating a child with a GSD requires a detailed knowledge of the possible associated CNS abnormalities. Here, we provide a pattern-recognition approach for neuroimaging findings in GSDs guided by the obvious skeletal manifestations of GSD. In particular, we summarize which CNS findings should be ruled out with each GSD. The diseases (n = 180) are classified based on the skeletal involvement (1. abnormal metaphysis or epiphysis, 2. abnormal size/number of bones, 3. abnormal shape of bones and joints, and 4. abnormal dynamic or structural changes). For each disease, skeletal involvement was defined in accordance with Online Mendelian Inheritance in Man. Morphological CNS involvement has been described based on extensive literature search. Selected examples will be shown based on prevalence of the diseases and significance of the CNS involvement. CNS involvement is common in GSDs. A wide spectrum of morphological abnormalities is associated with GSDs. Early diagnosis of CNS involvement is important in the management of children with GSDs. This pattern-recognition approach aims to assist and guide physicians in the diagnostic work-up of CNS involvement in children with GSDs and their management.

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“…General information: Characterized by the triad of eye, brain, and skin malformations. About 40 cases reported so far …”

Section: Glossarymentioning

confidence: 99%

Section: Glossarymentioning

confidence: 99%

Section: Lowe Oculocerebrorenal Syndrome (Omim: 309000)mentioning

confidence: 99%

Section: Lowe Oculocerebrorenal Syndrome (Omim: 309000)mentioning

confidence: 99%

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Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

Wagner

Poretti

Benson

et al. 2016

Journal of Neuroimaging

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“…This mutation may be associated with a somatic mosaicism that plays a pivotal role in ectodermal development. Another hypothesis has suggested the possibility of an association between the X chromosome and DS, resulting in the higher prevalence of this syndrome in the male population [ 3 ].…”

Section: Discussionmentioning

confidence: 99%

Oculocerebrocutaneous Syndrome (Delleman Syndrome): A Case with a Novel Presentation of Orbital Involvement

Bahmani

Naseri

Iraniparast

et al. 2021

Case Reports in Pediatrics

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Oculocerebrocutaneous syndrome (OCCS), also known as Delleman syndrome (DS), is a rare congenital anomaly featuring focal skin defects, orbital anomalies, and central nervous system malformations. Diagnosis of Delleman syndrome is based on the triad of eye, central nervous system (CNS), and cutaneous defects and confirmed by magnetic resonance imaging. A 23-day-old girl was referred to our department for brain imaging. The infant had multiple cutaneous appendages on the right side of her face. There also was a fleshy mass measuring about 12 mm over her right eye. Brain MRI demonstrated the evidence of colpocephaly, agenesis of the corpus callosum, nodular subependymal heterotopias adjacent to the right lateral ventricle, aplasia of the cerebellar vermis, hypoplasia of the right cerebellar hemisphere, and widening of CSF space in the posterior fossa. There was also an exophytic skin lesion on her right cheek, measuring about 13 × 12 mm in size. In the orbital MRI, there was a mixed cystic solid mass measuring about 25 × 20 mm in her right orbital cavity. The orbital content was abnormal and suggestive of rudimentary orbit. Considering the findings, diagnosis of oculocerebrocutaneous syndrome (Delleman syndrome) was established for the patient. Because of the variations in orbital and CNS manifestations, all patients with clinical suspicion of DS should be assessed by brain and orbital MRI and managed by a pediatric neurologist and ophthalmologist.

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Oculocerebrocutaneous Syndrome (Delleman-Oorthuys Syndrome)

Panteliadis

2022

Neurocutaneous Disorders

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Delleman (Oculocerebrocutaneous) Syndrome: Case report

Cited by 9 publications

References 6 publications

Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

Oculocerebrocutaneous Syndrome (Delleman Syndrome): A Case with a Novel Presentation of Orbital Involvement

Oculocerebrocutaneous Syndrome (Delleman-Oorthuys Syndrome)

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