Conference Presentations by Marwa Shihab
Background
\Microcephaly-capillary malformation syndrome (MICCAP syndrome) is a newly recognized ... more Background
\Microcephaly-capillary malformation syndrome (MICCAP syndrome) is a newly recognized congenital neurocutaneous central nervous system disorder. To date the diagnosis has been confirmed in 14 af- fected individuals.
Materials and methods
Meticulous clinical examination, brain MRI, echocardiogram, abdominal ultrasound, ophthalmological examination, electroencephalogram (EEG), thyroid profile, intelligent quotient, karyotyping and array-CGH were done. Results
We report a 5 years old girl of a non-consanguineous marriage with microcephaly, early onset seizures that started at 7 months of age, craniofacial dysmorphism, recurrent infection and profound intellec- tual disability. Delayed mile stones, craniofacial dysmorphism in- cluded narrow forehead, anterior recession of hair line, scanty eye brows, depressed nasal bridge, squint, tented upper lip, and pro- truded tongue. Limited extension of right wrist, brittle dystrophic nails, soft tissue syndactly of fingers and areas of cutaneous vascular malformation. Neurologically, she had hypertonia and hyperreflexia. The anthropometric measurements were weight 9 Kg (-3.5 SD), head circumference 39.5 cm (-8.8 SD) and height 90.5 cm (-3.7 SD). Thyroid profile showed hypothyroidism and Echo heart displayed patent for- amen oval, right ventricular dysplasia. DEXA revealed osteopenia at the spine and femur. The Intelligent Quotient (IQ) at the age of 5 years based on the Wechsler Intelligence Scale was 56 (profound intellectual disability). The MRI brain showed severe microcephaly with marked cerebral atrophic changes, incomplete demyelination, vascular malformation and hemorrhage of the brain. Dental examin- ation revealed high arched palate, delayed teeth eruption, abnormal small teeth, premature shedding of upper incisors and high caries index. Karyotype revealed normal female karyotype 46,XX and array- comparative genomic hybridization analysis (array CGH) was normal. Conclusions
To our knowledge this work presents the first patient of Microcephaly capillary malformation syndrome reported in Egypt. Our study displays previously unreported findings of dental abnormalities and osteopenia.
Papers by Marwa Shihab
Medical Research Journal, 2011
ABSTRACT Objective: To assess telomeric deletion and the telomerase gene copy number in patients ... more ABSTRACT Objective: To assess telomeric deletion and the telomerase gene copy number in patients with Fanconi anemia (FA) and aplastic anemia. Methods: The study included 10 patients with aplastic anemia (seven FA and three non-FA) and five healthy individuals. All patients were subjected to diepoxybutane test and fluorescent in-situ hybridization study using all human telomeres and TERC and TERT Gene fluorescent in-situ hybridization probes. Results: There was statistically significant difference in telomeric deletion in the patients with FA (P<0.005). Moreover, there was a significant telomeric deletion in patients with aplastic anemia (non-FA) (P<0.016), but there was no significant difference in the deletion between FA and non-FA (P<0.16). In contrast, none of the studied patients exhibited telomerase gene amplification. Conclusion: High values of telomeric end deletions were detected in our patients (FA and non-FA). Our finding confirms that the increase in the enzyme level is caused by other factors than gene amplification.
Middle East Journal of Medical Genetics, 2017
Middle East Journal of Medical Genetics, 2015
Medical Research Journal, 2011
ABSTRACT Objective: To assess telomeric deletion and the telomerase gene copy number in patients ... more ABSTRACT Objective: To assess telomeric deletion and the telomerase gene copy number in patients with Fanconi anemia (FA) and aplastic anemia. Methods: The study included 10 patients with aplastic anemia (seven FA and three non-FA) and five healthy individuals. All patients were subjected to diepoxybutane test and fluorescent in-situ hybridization study using all human telomeres and TERC and TERT Gene fluorescent in-situ hybridization probes. Results: There was statistically significant difference in telomeric deletion in the patients with FA (P<0.005). Moreover, there was a significant telomeric deletion in patients with aplastic anemia (non-FA) (P<0.016), but there was no significant difference in the deletion between FA and non-FA (P<0.16). In contrast, none of the studied patients exhibited telomerase gene amplification. Conclusion: High values of telomeric end deletions were detected in our patients (FA and non-FA). Our finding confirms that the increase in the enzyme level is caused by other factors than gene amplification.
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Conference Presentations by Marwa Shihab
\Microcephaly-capillary malformation syndrome (MICCAP syndrome) is a newly recognized congenital neurocutaneous central nervous system disorder. To date the diagnosis has been confirmed in 14 af- fected individuals.
Materials and methods
Meticulous clinical examination, brain MRI, echocardiogram, abdominal ultrasound, ophthalmological examination, electroencephalogram (EEG), thyroid profile, intelligent quotient, karyotyping and array-CGH were done. Results
We report a 5 years old girl of a non-consanguineous marriage with microcephaly, early onset seizures that started at 7 months of age, craniofacial dysmorphism, recurrent infection and profound intellec- tual disability. Delayed mile stones, craniofacial dysmorphism in- cluded narrow forehead, anterior recession of hair line, scanty eye brows, depressed nasal bridge, squint, tented upper lip, and pro- truded tongue. Limited extension of right wrist, brittle dystrophic nails, soft tissue syndactly of fingers and areas of cutaneous vascular malformation. Neurologically, she had hypertonia and hyperreflexia. The anthropometric measurements were weight 9 Kg (-3.5 SD), head circumference 39.5 cm (-8.8 SD) and height 90.5 cm (-3.7 SD). Thyroid profile showed hypothyroidism and Echo heart displayed patent for- amen oval, right ventricular dysplasia. DEXA revealed osteopenia at the spine and femur. The Intelligent Quotient (IQ) at the age of 5 years based on the Wechsler Intelligence Scale was 56 (profound intellectual disability). The MRI brain showed severe microcephaly with marked cerebral atrophic changes, incomplete demyelination, vascular malformation and hemorrhage of the brain. Dental examin- ation revealed high arched palate, delayed teeth eruption, abnormal small teeth, premature shedding of upper incisors and high caries index. Karyotype revealed normal female karyotype 46,XX and array- comparative genomic hybridization analysis (array CGH) was normal. Conclusions
To our knowledge this work presents the first patient of Microcephaly capillary malformation syndrome reported in Egypt. Our study displays previously unreported findings of dental abnormalities and osteopenia.
Papers by Marwa Shihab
\Microcephaly-capillary malformation syndrome (MICCAP syndrome) is a newly recognized congenital neurocutaneous central nervous system disorder. To date the diagnosis has been confirmed in 14 af- fected individuals.
Materials and methods
Meticulous clinical examination, brain MRI, echocardiogram, abdominal ultrasound, ophthalmological examination, electroencephalogram (EEG), thyroid profile, intelligent quotient, karyotyping and array-CGH were done. Results
We report a 5 years old girl of a non-consanguineous marriage with microcephaly, early onset seizures that started at 7 months of age, craniofacial dysmorphism, recurrent infection and profound intellec- tual disability. Delayed mile stones, craniofacial dysmorphism in- cluded narrow forehead, anterior recession of hair line, scanty eye brows, depressed nasal bridge, squint, tented upper lip, and pro- truded tongue. Limited extension of right wrist, brittle dystrophic nails, soft tissue syndactly of fingers and areas of cutaneous vascular malformation. Neurologically, she had hypertonia and hyperreflexia. The anthropometric measurements were weight 9 Kg (-3.5 SD), head circumference 39.5 cm (-8.8 SD) and height 90.5 cm (-3.7 SD). Thyroid profile showed hypothyroidism and Echo heart displayed patent for- amen oval, right ventricular dysplasia. DEXA revealed osteopenia at the spine and femur. The Intelligent Quotient (IQ) at the age of 5 years based on the Wechsler Intelligence Scale was 56 (profound intellectual disability). The MRI brain showed severe microcephaly with marked cerebral atrophic changes, incomplete demyelination, vascular malformation and hemorrhage of the brain. Dental examin- ation revealed high arched palate, delayed teeth eruption, abnormal small teeth, premature shedding of upper incisors and high caries index. Karyotype revealed normal female karyotype 46,XX and array- comparative genomic hybridization analysis (array CGH) was normal. Conclusions
To our knowledge this work presents the first patient of Microcephaly capillary malformation syndrome reported in Egypt. Our study displays previously unreported findings of dental abnormalities and osteopenia.