Results: 5

1.
FIG. 1

FIG. 1. From: A Homozygous IER3IP1 Mutation Causes Microcephaly With Simplified Gyral Pattern, Epilepsy, and Permanent Neonatal Diabetes Syndrome (MEDS).

The pedigree of the families included in the study.

Ghada MH Abdel-Salam, et al. Am J Med Genet A. 2012 November;158A(11):2788-2796.
2.
FIG. 2

FIG. 2. From: A Homozygous IER3IP1 Mutation Causes Microcephaly With Simplified Gyral Pattern, Epilepsy, and Permanent Neonatal Diabetes Syndrome (MEDS).

The facial features of Patients. Note narrow/short forehead with bitemporal grooving, anteverted nares, deep philtrum, and tented vermilion of upper lip.

Ghada MH Abdel-Salam, et al. Am J Med Genet A. 2012 November;158A(11):2788-2796.
3.
FIG. 5

FIG. 5. From: A Homozygous IER3IP1 Mutation Causes Microcephaly With Simplified Gyral Pattern, Epilepsy, and Permanent Neonatal Diabetes Syndrome (MEDS).

Sequence chromatograms of exon 3 of the IER3IP1 gene showing the point mutation c.T233C detected as homozygous in the affected patients from each family, heterozygous in both parents, and homozygous wildtype in both unaffected siblings.

Ghada MH Abdel-Salam, et al. Am J Med Genet A. 2012 November;158A(11):2788-2796.
4.
FIG. 3

FIG. 3. From: A Homozygous IER3IP1 Mutation Causes Microcephaly With Simplified Gyral Pattern, Epilepsy, and Permanent Neonatal Diabetes Syndrome (MEDS).

Radiograph of Patient 1. A: Osteopenia in carpal, metacarpal and phalanges with cone shaped proximal phalanges. B: Thin cortex of tibia and fibula with metaphyseal widening and osteopenia. C: Thin cortex of femora with severe osteopenia. D: Kyphosis, severe osteopenia with platyspondyly and osteopenic ribs.

Ghada MH Abdel-Salam, et al. Am J Med Genet A. 2012 November;158A(11):2788-2796.
5.
FIG. 4

FIG. 4. From: A Homozygous IER3IP1 Mutation Causes Microcephaly With Simplified Gyral Pattern, Epilepsy, and Permanent Neonatal Diabetes Syndrome (MEDS).

Cranial MRI of patients. First column: Rostral axial T1 weighted images show simplified gyral pattern, severe microcephaly, and different degree of ventriculomegaly, suggestive for cerebral atrophy. Second column: Caudal axial T1 weighted images showing brain atrophy and simplified gyral pattern. Third column: Sagittal images showing severely reduced volume of corpus callosum and cerebellar vermis hypoplasia.

Ghada MH Abdel-Salam, et al. Am J Med Genet A. 2012 November;158A(11):2788-2796.

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