Septo-optic dysplasia with a transverse limb defect

Millar, Sarinda; Chillingworth, Anna; Bell, Angela H.; Carson, Dennis; McKee, Shane

doi:10.1097/mcd.0b013e3282f29c3d

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Fig 3 Mri Axial T1 [Ac] and T2 [Bd] Images Showed Absence1

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Cited by 5 publications

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“…In this report, SOD as well as the limb defects were though to be related to the impairment of uteroplacental fetal blood flow during critical periods of development related to maternal use of cocaine 8 . Another limb defect associated with SOD is the presence of transverse limb defect, as recently reported 11 . Congenital bilateral clubfoot, however, is rarely reported in association with SOD, in a large study evaluating 357 patients with congenital clubfoot, one patient presented SOD 12 , and, to our knowledge, no other cases were reported.…”

Section: Fig 3 Mri Axial T1 [Ac] and T2 [Bd] Images Showed Absencementioning

confidence: 71%

Self-aggression and congenital clubfoot: additional features to the septo-optic dysplasia complex

Lin

Peruchi

Masruha

et al. 2009

Arq. Neuro-Psiquiatr.

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Section: Fig 3 Mri Axial T1 [Ac] and T2 [Bd] Images Showed Absencementioning

confidence: 71%

Self-aggression and congenital clubfoot: additional features to the septo-optic dysplasia complex

Lin

Peruchi

Masruha

et al. 2009

Arq. Neuro-Psiquiatr.

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“…7 Other rare associations reported are congenital hepatic fibrosis, renal angiomyolipoma (AML) 8 cerebral cortical abnormality (SOD plus) 9 and transverse limb defect. 10 Neurological abnormalities can also occur in patients like cerebral palsy, developmental delay or seizures.…”

Section: Discussionmentioning

confidence: 99%

Uncommon Presentation of Septo-Optic Dysplasia: Case Report

Dhingra¹

2017

EMIJ

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Septo-optic dysplasia (SOD) is a rare developmental disorder with an incidence of 1 in 10,000. 1 It comprises of clinical trial of midline brain abnormality, optic nerve hypoplasia and hypopituitarism. Diagnosis of this syndrome is clinical with equal occurrence rate in both the sexes .However in recent times various genetic mutations have been found causing this syndrome complex like HESX 1 , OTX 2 , SOX 3 and SOX 2 , at the same time yield of genetic diagnosis in less than 1% .We report here two unique cases of Septo-optic dysplasia, first with late presentation with multiple pituitary hormone deficiency and the second with normal pituitary functions and associated infantile obesity.

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