New syndrome: Focal dermal hypoplasia, morning glory anomaly, and polymicrogyria

Giampietro, Philip F.; Babu, Deepti; Koehn, Monica A.; Jacobson, Daniel M.; Mueller-Schrader, Karla A.; Moretti, Cara; Patten, Stella F.; Shaffer, Lisa G.; Gorlin, Robert J.; Dobyns, William B.

doi:10.1002/ajmg.a.20377

Cited by 12 publications

(7 citation statements)

References 17 publications

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“…The features seen in this patient, particularly the localization to the right side of the face and chest, together with grey matter heterotopias, are similar to the case reported by Giampietro et al, (2004), although without any retinal or hand involvement. The absence of digital abnormalities together with the brain abnormalities suggest a diagnosis other than focal dermal hypoplasia (Temple et al, 1990).…”

Section: Discussionsupporting

confidence: 81%

Focal dermal hypoplasia with subependymal heterotopia and hypoplastic corpus callosum

Fisher

Pairaudeau

Innes

et al. 2007

Clinical Dysmorphology

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A case is reported with right-sided abnormalities involving the brain, eyelid, eye, face and chest. The features described are similar to those found in conditions including focal dermal hypoplasia, microphthalmia with linear skin defects, oculocerebrocutaneous syndrome and terminal osseous dysplasia and pigmentary defects. However, none of these conditions, fully explains the collection of abnormalities found in this patient.

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Section: Discussionsupporting

confidence: 81%

Focal dermal hypoplasia with subependymal heterotopia and hypoplastic corpus callosum

Fisher

Pairaudeau

Innes

et al. 2007

Clinical Dysmorphology

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“…21,28 Abnormalities of the visual pathways have also been reported in MGDA, including atrophy/hypoplasia of the contralateral optic chiasm as well as optic nerve glioma. 3,29 In our cohort, we observed each of these findings in 1 patient. The optic chiasm atrophy/hypoplasia in MGDA could result either from retrograde axonal degeneration in the setting of an intracranial lesion or from antegrade degeneration related to the ganglion cell deficit within the developing retina.…”

Section: Figmentioning

confidence: 61%

Morning Glory Disc Anomaly: Characteristic MR Imaging Findings

Ellika¹,

Robson²,

Heidary

et al. 2013

AJNR Am J Neuroradiol

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SUMMARY:Establishing the diagnosis of morning glory disc anomaly is crucial to appropriate patient treatment. Although typically made clinically, the diagnosis is not always straightforward, especially in circumstances where physical examination is limited. The goal of this study was to define the spectrum and frequency of orbital findings in a series of patients with funduscopically-confirmed morning glory disc anomaly by using MR imaging. MR imaging demonstrated 3 findings in all patients: 1) funnel-shaped morphologic pattern of the posterior optic disc with elevation of the adjacent retinal surface; 2) abnormal tissue associated with the distal intraorbital segment of the ipsilateral optic nerve, with effacement of the regional subarachnoid spaces; and 3) discontinuity of the uveoscleral coat. These findings were not observed in any of the unaffected globes of the study patients. In summary, these consistent and characteristic findings of morning glory disc anomaly should allow for accurate differentiation from other ocular anomalies and have the potential to guide appropriate management of this patient population. ABBREVIATIONS:MGDA ϭ morning glory disc anomaly

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“…Twelve cases, a significant proportion of the original 40, were excluded. Among the 12 was the report by Giampietro et al [2004], in which the authors considered but then rejected a diagnosis of OCCS; the patients described by Braun‐Vallon et al [1958], and by Leichtman et al [1994], in which the diagnosis of OCCS was suggested by subsequent authors.…”

Section: Discussionmentioning

confidence: 99%

Oculocerebrocutaneous and encephalocraniocutaneous lipomatosis syndromes: Blind men and an elephant or separate syndromes?

Hunter

2006

American J of Med Genetics Pt A

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The discovery of relevant causative genes has subdued the lumping versus splitting debate with respect to a growing number of syndromes. However, it remains paramount to define unknown genesis syndromes as precisely and appropriately as possible in order to provide accurate prognosis and to facilitate future research. The presentation of a 14-month-old girl, of normal intelligence, who had a colobomatous right eye with cyst, minor intracranial MRI variants, and an area of sparse scalp hair containing a 1 by 1.5 cm, soft, domed, and indented skin lesion suggested a diagnosis of mild oculocerebrocutaneous syndrome (OCCS). An initial exploration of the literature exposed the extreme variability in cases that have been reported as OCCS, and emphasized its possible relationship to encephalocraniocutaneous lipomatosis (ECCL), thus challenging the initial diagnosis. Cases reported, or discussed by others, as possible OCCS (40) and ECCL (44) were reviewed as completely as possible in an effort to determine whether diagnostic criteria could be developed for these syndromes, and to see whether or not evidence favored their continued separation as two syndromes. The approach used was to summarize the data for all cases, to select major and minor diagnostic criteria on the basis of the relative specificity and/or frequency of a sign, to then apply the criteria in a standard fashion and to review the outcome to see if the classification of cases made clinical sense, and to make appropriate adjustments. The criteria were not chosen so as to separate the syndromes and in some instances the same criteria could apply to either syndrome. An approach is outlined for handling reports of patients that purport to be variants or to expand the spectrum of a syndrome, and in the case of OCCS and ECCL this resulted in most such examples being excluded. Application of diagnostic criteria suggests that OCCS and ECCL are distinct, and that some case reports, including some purporting to expand the spectrum of OCCS, should be excluded, at least until such time as the etiology of these conditions is known and those cases can be tested. These diagnostic criteria were developed on the basis of literature reports that varied in their quantity and quality of detail. Furthermore, in many cases reliance had to be placed on copies of original studies with resultant degradation of photographic information. Modern ocular imaging, and histopathology of eye and skin malformations, will often clarify the specific nature of a malformation and, therefore, define exact diagnostic criteria and leave fewer uncertain cases. In the absence of anomalies in those systems, or if histopathology or appropriate imaging is unavailable, the diagnosis in some cases will continue to remain uncertain; this is not an argument for lumping the syndromes.

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New syndrome: Focal dermal hypoplasia, morning glory anomaly, and polymicrogyria

Cited by 12 publications

References 17 publications

Focal dermal hypoplasia with subependymal heterotopia and hypoplastic corpus callosum

Focal dermal hypoplasia with subependymal heterotopia and hypoplastic corpus callosum

Morning Glory Disc Anomaly: Characteristic MR Imaging Findings

Oculocerebrocutaneous and encephalocraniocutaneous lipomatosis syndromes: Blind men and an elephant or separate syndromes?

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