Cornelia de Lange syndrome- Report of the Second Case from Ahvaz
Cornelia de Lange syndrome (CdLS) is a rare hereditary disease, characterized by severe growth retardation, microcephaly, and limb anomalies, distinctive dysmorphic features and mental retardation. The etiology is not still clear. However, it is caused by mutation of the nipped- B- like (NIPBL) gene...
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| Format: | Article |
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Ahvaz Jundishapur University of Medical Sciences
2012-09-01
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| Series: | Majalah-i ̒ilmī pizishkī-i jundī/shapūr |
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| Online Access: | http://journals.ajums.ac.ir/components4.php?rQV===AfABDQ6QnchR3cfZGfABDNApDZJRnblJXYw9lZ8BkN3MDQ6QWStVGdp9lZ8BEOApDZJxWY0J3bQxWYuJXdvp2XmxHQyATNApDZJ52bpR3Yh9lZ |
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| _version_ | 1849250826585899008 |
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| author | Ali Ahmadzadeh Azin Ahmadzadeh Mohammadreza Fathi Arash Ahmadzadeh |
| author_facet | Ali Ahmadzadeh Azin Ahmadzadeh Mohammadreza Fathi Arash Ahmadzadeh |
| author_sort | Ali Ahmadzadeh |
| collection | DOAJ |
| description | Cornelia de Lange syndrome (CdLS) is a rare hereditary disease, characterized by severe growth retardation, microcephaly, and limb anomalies, distinctive dysmorphic features and mental retardation. The etiology is not still clear. However, it is caused by mutation of the nipped- B- like (NIPBL) gene in approximately 50% of cases. Here, we report our second case of CdLS from Ahvaz after 19 years. The patient was a 15- month girl admitted in our center due to urinary tract infection. She had characteristic dysmorphic features, microcephaly, growth and developmental retardation, upper and lower limb defects, associated with renal cyst and dysplasia. CdLS is a rare hereditary syndrome with severe congenital anomalies. The diagisis is practically based on the characteristic phenotype. The further prognosis is poor. |
| format | Article |
| id | doaj-art-953973962b8340cda3391c8701b61a7d |
| institution | Kabale University |
| issn | 2252-052X 2252-0619 |
| language | fas |
| publishDate | 2012-09-01 |
| publisher | Ahvaz Jundishapur University of Medical Sciences |
| record_format | Article |
| series | Majalah-i ̒ilmī pizishkī-i jundī/shapūr |
| spelling | doaj-art-953973962b8340cda3391c8701b61a7d2025-08-20T03:57:08ZfasAhvaz Jundishapur University of Medical SciencesMajalah-i ̒ilmī pizishkī-i jundī/shapūr2252-052X2252-06192012-09-01114449455Cornelia de Lange syndrome- Report of the Second Case from AhvazAli AhmadzadehAzin AhmadzadehMohammadreza FathiArash AhmadzadehCornelia de Lange syndrome (CdLS) is a rare hereditary disease, characterized by severe growth retardation, microcephaly, and limb anomalies, distinctive dysmorphic features and mental retardation. The etiology is not still clear. However, it is caused by mutation of the nipped- B- like (NIPBL) gene in approximately 50% of cases. Here, we report our second case of CdLS from Ahvaz after 19 years. The patient was a 15- month girl admitted in our center due to urinary tract infection. She had characteristic dysmorphic features, microcephaly, growth and developmental retardation, upper and lower limb defects, associated with renal cyst and dysplasia. CdLS is a rare hereditary syndrome with severe congenital anomalies. The diagisis is practically based on the characteristic phenotype. The further prognosis is poor.http://journals.ajums.ac.ir/components4.php?rQV===AfABDQ6QnchR3cfZGfABDNApDZJRnblJXYw9lZ8BkN3MDQ6QWStVGdp9lZ8BEOApDZJxWY0J3bQxWYuJXdvp2XmxHQyATNApDZJ52bpR3Yh9lZCornelia de Langemicrocephalylimb defect. |
| spellingShingle | Ali Ahmadzadeh Azin Ahmadzadeh Mohammadreza Fathi Arash Ahmadzadeh Cornelia de Lange syndrome- Report of the Second Case from Ahvaz Majalah-i ̒ilmī pizishkī-i jundī/shapūr Cornelia de Lange microcephaly limb defect. |
| title | Cornelia de Lange syndrome- Report of the Second Case from Ahvaz |
| title_full | Cornelia de Lange syndrome- Report of the Second Case from Ahvaz |
| title_fullStr | Cornelia de Lange syndrome- Report of the Second Case from Ahvaz |
| title_full_unstemmed | Cornelia de Lange syndrome- Report of the Second Case from Ahvaz |
| title_short | Cornelia de Lange syndrome- Report of the Second Case from Ahvaz |
| title_sort | cornelia de lange syndrome report of the second case from ahvaz |
| topic | Cornelia de Lange microcephaly limb defect. |
| url | http://journals.ajums.ac.ir/components4.php?rQV===AfABDQ6QnchR3cfZGfABDNApDZJRnblJXYw9lZ8BkN3MDQ6QWStVGdp9lZ8BEOApDZJxWY0J3bQxWYuJXdvp2XmxHQyATNApDZJ52bpR3Yh9lZ |
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