Oculodentodigital Dysplasia

Judisch, G. Frank

doi:10.1001/archopht.1979.01020010436007

Cited by 88 publications

(20 citation statements)

References 18 publications

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“…Dental abnormalities with enamel dysplasia are a feature of oculodentogidigital dysplasia [6]. In peroxisome biogenesis disorders, teeth abnormalities include enamel defects of the secondary teeth.…”

Section: Extra-neurologic Findingsmentioning

confidence: 99%

A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies

Parikh

Bernard

Leventer

et al. 2015

Molecular Genetics and Metabolism

175

162

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Leukodystrophies (LD) and genetic leukoencephalopathies (gLE) are disorders that result in white matter abnormalities in the central nervous system (CNS). Magnetic resonance (MR) imaging (MRI) has dramatically improved and systematized the diagnosis of LDs and gLEs, and in combination with specific clinical features, such as Addison's disease in Adrenoleukodystrophy or hypodontia in Pol-III related or 4H leukodystrophy, can often resolve a case with a minimum of testing. The diagnostic odyssey for the majority LD and gLE patients, however, remains extensive – many patients will wait nearly a decade for a definitive diagnosis and at least half will remain unresolved. The combination of MRI, careful clinical evaluation and next generation genetic sequencing holds promise for both expediting the diagnostic process and dramatically reducing the number of unresolved cases. Here we present a workflow detailing the Global Leukodystrophy Initiative (GLIA) consensus recommendations for an approach to clinical diagnosis, including salient clinical features suggesting a specific diagnosis, neuroim-aging features and molecular genetic testing. We also discuss recommendations on the use of broad-spectrum next-generation sequencing in instances of ambiguous MRI or clinical findings. We conclude with a proposal for systematic trials of genome-wide agnostic testing as a first line diagnostic in LDs and gLEs given the increasing number of genes associated with these disorders.

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Section: Extra-neurologic Findingsmentioning

confidence: 99%

A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies

Parikh

Bernard

Leventer

et al. 2015

Molecular Genetics and Metabolism

175

162

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“…The differential diagnosis of microphthalmia or anophthalmia along with digital, skeletal and other congenital anomalies includes trisomy 13, Goltz syndrome (focal dermal hypoplasia),3 Waardenburg′s recessive anophthalmia syndrome,4 oculodento-osseous dysplasia,5 Lenz microphthalmia syndrome.…”

Section: Discussionmentioning

confidence: 99%

“…Other syndromes with microphthalmia or anophthalmia with skeletal and other congenital abnormalities include Goltz syndrome (focal dermal hypoplasia),3 Waardenburg′s recessive anophthalmia syndrome4 and oculodento-osseous dysplasia 5 . Goltz syndrome, an X-linked dominant disease is characterized by linear regions of dermal atrophy, colobomatous microphthalmia and digital abnormalities like syndactyly or polydactyly.…”

Section: Discussionmentioning

confidence: 99%

“…Waardenburg′s recessive anophthalmia syndrome, an autosomal recessive disorder, is characterized by anophthalmia or microphthalmia, acromelic limb malformations (typically oligodactyly, camptodactyly and fused fourth-fifth metacarpals), variable mental retardation and distinctive facial features 4 . Oculodento-osseous dysplasia, an autosomal dominant disorder, is characterized by thin nose, hypoplastic alae, dental hypoplasia, camptodactyly and syndactyly and microphthalmos 5. …”

Section: Discussionmentioning

confidence: 99%

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Lenz microphthalmic syndrome in an Indian patient

Gupta¹,

Srinivasan²,

Pandian³

et al. 2007

Indian J Ophthalmol

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A case of Lenz microphthalmia syndrome in a seven-month-old male child having features of unilateral anophthalmia, microcephaly, external ear and finger abnormalities, hydrocele and hypospadias is being reported. The unilateral involvement and anophthalmia is rare in Lenz syndrome. The manifestation of hydrocele in association with this syndrome has not been seen in earlier cases. This is the first documented case from India.

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“…The combination of anophthalmia/microphthalmia and skeletal and dental anomalies was considered in the differential diagnosis. Oculodentodigital dysplasia [Judisch et al, 1979;Gorlin et al, 1990] is characterized by a thin nose with hypoplastic alae and narrow nostrils, microcornea, and microdontia with enamel hypoplasia. Stature and developmental status usually are normal in oculodentodigital dysplasia.…”

Section: Discussionmentioning

confidence: 99%

Microphthalmia, marked short stature, hearing loss, and developmental delay: Extension of the phenotype of GOMBO syndrome?

Farrell¹

1997

Am. J. Med. Genet.

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An adult male with microphthalmia, severe developmental delay, conductive hearing loss, marked short stature of prenatal onset, and radiographic skeletal changes is described. A review of the literature, focusing on his major findings, suggests that his manifestations might be an extension of the phenotype of GOMBO (growth retardation, ocular abnormalities, microcephaly, brachydactyly, oligophrenia) syndrome.

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Oculodentodigital Dysplasia

Cited by 88 publications

References 18 publications

A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies

A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies

Lenz microphthalmic syndrome in an Indian patient

Microphthalmia, marked short stature, hearing loss, and developmental delay: Extension of the phenotype of GOMBO syndrome?

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