| © 2001-2009, DermAtlas | Image Name: | charge_syndrome_1_050507 | File Type: | jpg | |
| Diagnosis: | CHARGE SYNDROME / MALFORMATION, CONGENITAL | Category: | dysmorphology / genodermatosis/genetic disorder / congenital malformation | ||
| Body Site: | face | Age: | 9 months | ||
| Contributor: | Bernard Cohen, MD | ||||
| Description: | dysmorphic facies with downslanting palpabrel fissures, cupped right ear, antiverted nares, and malar flattening | ||||
| Comments: | This 6-month-old boy was noted to have partial choanal atresia, dysmorphic facies, and malformed ears at birth. Other anomalies included an atrial septal defect, ventricular septal defect, hearing loss, anomalies of the lower extremities, hypogonadism, and coloboma of the optic nerve. He received a tracheostomy shortly after birth, and had poor feeding and weight gain which necessitated the placement of a gastrostomy. CHARGE syndrome, which is linked to locus 8q12.1, describes the characteristic findings of coloboma, heart defects, atretic choanae, retarded growth and development, genital hypoplasia, and ear anomalies and deafness. | ||||
| Related Images: | All related Images charge_syndrome_8_050507 charge_syndrome_7_050507 charge_syndrome_6_050507 charge_syndrome_5_050507 charge_syndrome_4_050507 charge_syndrome_3_050507 charge_syndrome_2_050507 | ||||
| © 2001-2009, DermAtlas | Image Name: | charge_syndrome_2_050507 | File Type: | jpg | |
| Diagnosis: | CHARGE SYNDROME / MALFORMATION, CONGENITAL | Category: | dysmorphology / genodermatosis/genetic disorder / congenital malformation | ||
| Body Site: | face | Age: | 9 months | ||
| Contributor: | Bernard Cohen, MD | ||||
| Description: | dysmorphic facies with downslanting palpabrel fissures, cupped right ear, antiverted nares, and malar flattening | ||||
| Comments: | This 6-month-old boy was noted to have partial choanal atresia, dysmorphic facies, and malformed ears at birth. Other anomalies included an atrial septal defect, ventricular septal defect, hearing loss, anomalies of the lower extremities, hypogonadism, and coloboma of the optic nerve. He received a tracheostomy shortly after birth, and had poor feeding and weight gain which necessitated the placement of a gastrostomy. CHARGE syndrome, which is linked to locus 8q12.1, describes the characteristic findings of coloboma, heart defects, atretic choanae, retarded growth and development, genital hypoplasia, and ear anomalies and deafness. | ||||
| Related Images: | All related Images charge_syndrome_8_050507 charge_syndrome_7_050507 charge_syndrome_6_050507 charge_syndrome_5_050507 charge_syndrome_4_050507 charge_syndrome_3_050507 charge_syndrome_1_050507 | ||||
| © 2001-2009, DermAtlas | Image Name: | charge_syndrome_3_050507 | File Type: | jpg | |
| Diagnosis: | CHARGE SYNDROME / MALFORMATION, CONGENITAL | Category: | dysmorphology / genodermatosis/genetic disorder / congenital malformation | ||
| Body Site: | face | Age: | 9 months | ||
| Contributor: | Bernard Cohen, MD | ||||
| Description: | dysmorphic facies with downslanting palpabrel fissures, cupped right ear, antiverted nares, and malar flattening | ||||
| Comments: | This 6-month-old boy was noted to have partial choanal atresia, dysmorphic facies, and malformed ears at birth. Other anomalies included an atrial septal defect, ventricular septal defect, hearing loss, anomalies of the lower extremities, hypogonadism, and coloboma of the optic nerve. He received a tracheostomy shortly after birth, and had poor feeding and weight gain which necessitated the placement of a gastrostomy. CHARGE syndrome, which is linked to locus 8q12.1, describes the characteristic findings of coloboma, heart defects, atretic choanae, retarded growth and development, genital hypoplasia, and ear anomalies and deafness. | ||||
| Related Images: | All related Images charge_syndrome_8_050507 charge_syndrome_7_050507 charge_syndrome_6_050507 charge_syndrome_5_050507 charge_syndrome_4_050507 charge_syndrome_2_050507 charge_syndrome_1_050507 | ||||
| © 2001-2009, DermAtlas | Image Name: | charge_syndrome_4_050507 | File Type: | jpg | |
| Diagnosis: | CHARGE SYNDROME / MALFORMATION, CONGENITAL | Category: | dysmorphology / genodermatosis/genetic disorder / congenital malformation | ||
| Body Site: | ear | Age: | 9 months | ||
| Contributor: | Bernard Cohen, MD | ||||
| Description: | dysplastic ear | ||||
| Comments: | This 6-month-old boy was noted to have partial choanal atresia, dysmorphic facies, and malformed ears at birth. Other anomalies included an atrial septal defect, ventricular septal defect, hearing loss, anomalies of the lower extremities, hypogonadism, and coloboma of the optic nerve. He received a tracheostomy shortly after birth, and had poor feeding and weight gain which necessitated the placement of a gastrostomy. CHARGE syndrome, which is linked to locus 8q12.1, describes the characteristic findings of coloboma, heart defects, atretic choanae, retarded growth and development, genital hypoplasia, and ear anomalies and deafness. | ||||
| Related Images: | All related Images charge_syndrome_8_050507 charge_syndrome_7_050507 charge_syndrome_6_050507 charge_syndrome_5_050507 charge_syndrome_3_050507 charge_syndrome_2_050507 charge_syndrome_1_050507 | ||||
| © 2001-2009, DermAtlas | Image Name: | charge_syndrome_5_050507 | File Type: | jpg | |
| Diagnosis: | CHARGE SYNDROME / MALFORMATION, CONGENITAL | Category: | dysmorphology / genodermatosis/genetic disorder / congenital malformation | ||
| Body Site: | ear | Age: | 9 months | ||
| Contributor: | Bernard Cohen, MD | ||||
| Description: | dysplastic ear | ||||
| Comments: | This 6-month-old boy was noted to have partial choanal atresia, dysmorphic facies, and malformed ears at birth. Other anomalies included an atrial septal defect, ventricular septal defect, hearing loss, anomalies of the lower extremities, hypogonadism, and coloboma of the optic nerve. He received a tracheostomy shortly after birth, and had poor feeding and weight gain which necessitated the placement of a gastrostomy. CHARGE syndrome, which is linked to locus 8q12.1, describes the characteristic findings of coloboma, heart defects, atretic choanae, retarded growth and development, genital hypoplasia, and ear anomalies and deafness. | ||||
| Related Images: | All related Images charge_syndrome_8_050507 charge_syndrome_7_050507 charge_syndrome_6_050507 charge_syndrome_4_050507 charge_syndrome_3_050507 charge_syndrome_2_050507 charge_syndrome_1_050507 | ||||
| © 2001-2009, DermAtlas | Image Name: | charge_syndrome_6_050507 | File Type: | jpg | |
| Diagnosis: | CHARGE SYNDROME / MALFORMATION, CONGENITAL | Category: | dysmorphology / genodermatosis/genetic disorder / congenital malformation | ||
| Body Site: | neck | Age: | 9 months | ||
| Contributor: | Bernard Cohen, MD | ||||
| Description: | tracheostomy | ||||
| Comments: | This 6-month-old boy was noted to have partial choanal atresia, dysmorphic facies, and malformed ears at birth. Other anomalies included an atrial septal defect, ventricular septal defect, hearing loss, anomalies of the lower extremities, hypogonadism, and coloboma of the optic nerve. He received a tracheostomy shortly after birth, and had poor feeding and weight gain which necessitated the placement of a gastrostomy. CHARGE syndrome, which is linked to locus 8q12.1, describes the characteristic findings of coloboma, heart defects, atretic choanae, retarded growth and development, genital hypoplasia, and ear anomalies and deafness. | ||||
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| © 2001-2009, DermAtlas | Image Name: | charge_syndrome_7_050507 | File Type: | jpg | |
| Diagnosis: | CHARGE SYNDROME / MALFORMATION, CONGENITAL | Category: | dysmorphology / genodermatosis/genetic disorder / congenital malformation | ||
| Body Site: | leg | Age: | 9 months | ||
| Contributor: | Bernard Cohen, MD | ||||
| Description: | cast following repair of leg anomaly | ||||
| Comments: | This 6-month-old boy was noted to have partial choanal atresia, dysmorphic facies, and malformed ears at birth. Other anomalies included an atrial septal defect, ventricular septal defect, hearing loss, anomalies of the lower extremities, hypogonadism, and coloboma of the optic nerve. He received a tracheostomy shortly after birth, and had poor feeding and weight gain which necessitated the placement of a gastrostomy. CHARGE syndrome, which is linked to locus 8q12.1, describes the characteristic findings of coloboma, heart defects, atretic choanae, retarded growth and development, genital hypoplasia, and ear anomalies and deafness. | ||||
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| © 2001-2009, DermAtlas | Image Name: | charge_syndrome_8_050507 | File Type: | jpg | |
| Diagnosis: | CHARGE SYNDROME / MALFORMATION, CONGENITAL | Category: | dysmorphology / genodermatosis/genetic disorder / congenital malformation | ||
| Body Site: | abdomen | Age: | 9 months | ||
| Contributor: | Bernard Cohen, MD | ||||
| Description: | gastrostomy and central line | ||||
| Comments: | This 6-month-old boy was noted to have partial choanal atresia, dysmorphic facies, and malformed ears at birth. Other anomalies included an atrial septal defect, ventricular septal defect, hearing loss, anomalies of the lower extremities, hypogonadism, and coloboma of the optic nerve. He received a tracheostomy shortly after birth, and had poor feeding and weight gain which necessitated the placement of a gastrostomy. CHARGE syndrome, which is linked to locus 8q12.1, describes the characteristic findings of coloboma, heart defects, atretic choanae, retarded growth and development, genital hypoplasia, and ear anomalies and deafness. | ||||
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