case_images: PMC3628395_01
case_images: Facial profile of the patient showing pinched up nose, hollow cheeks, exuberant scalp hair, and increased terminal hair on face
case_images: JCRPE-5-58-g3.jpg
case_images: PMC3628395_01_JCRPE-5-58-g3.jpg
case_images: f1
case_images: Examination revealed a bird-like facies, pinched up pointed nose, hollow cheeks (Figure 1), prominent mandible, abnormal dentition (Figures 2, 3), exuberant scalp and body hair, acanthosis over the nape of her neck, on the axilla, elbows and knuckles, a shrivelled skin mainly in her upper limbs and trunk (Figure 4).
case_images: Upper jaw of the patient showing two rows of teeth
case_images: JCRPE-5-58-g4.jpg
case_images: PMC3628395_01_JCRPE-5-58-g4.jpg
case_images: f2
case_images: Examination revealed a bird-like facies, pinched up pointed nose, hollow cheeks (Figure 1), prominent mandible, abnormal dentition (Figures 2, 3), exuberant scalp and body hair, acanthosis over the nape of her neck, on the axilla, elbows and knuckles, a shrivelled skin mainly in her upper limbs and trunk (Figure 4).
case_images: Orthopantogram showing two rows of teeth in upper and lower jaw
case_images: JCRPE-5-58-g5.jpg
case_images: PMC3628395_01_JCRPE-5-58-g5.jpg
case_images: f3
case_images: Examination revealed a bird-like facies, pinched up pointed nose, hollow cheeks (Figure 1), prominent mandible, abnormal dentition (Figures 2, 3), exuberant scalp and body hair, acanthosis over the nape of her neck, on the axilla, elbows and knuckles, a shrivelled skin mainly in her upper limbs and trunk (Figure 4).
case_images: Profile of the patient showing two rows of teeth in the lower jaw, increased terminal hair on the face, along with acanthosis around the neck and axilla
case_images: JCRPE-5-58-g6.jpg
case_images: PMC3628395_01_JCRPE-5-58-g6.jpg
case_images: f4
case_images: Examination revealed a bird-like facies, pinched up pointed nose, hollow cheeks (Figure 1), prominent mandible, abnormal dentition (Figures 2, 3), exuberant scalp and body hair, acanthosis over the nape of her neck, on the axilla, elbows and knuckles, a shrivelled skin mainly in her upper limbs and trunk (Figure 4).
case_images: Ultrasonography of the abdomen showing bilateral polycystic ovaries with presence of a dominant cyst in the right ovary
case_images: JCRPE-5-58-g7.jpg
case_images: PMC3628395_01_JCRPE-5-58-g7.jpg
case_images: f5
case_images: Abdominal ultrasonography showed normal kidneys and Mullerian structures, a liver with heterogeneous echotexture, and polycystic ovaries with echogenic stroma (Figure 5).
case_images: Echocardiography showing ostium secundum variant of atrial septal defect
case_images: JCRPE-5-58-g8.jpg
case_images: PMC3628395_01_JCRPE-5-58-g8.jpg
case_images: f6
case_images: Echocardiography showed small ostium secundum ASD (Figure 6).
case_images: Magnetic resonance imaging of brain (T1W) showing normal pituitary and suprasellar region with normal pineal gland
case_images: JCRPE-5-58-g9.jpg
case_images: PMC3628395_01_JCRPE-5-58-g9.jpg
case_images: f7
case_images: Brain magnetic resonance imaging (MRI) showed a normal pineal gland (Figure 7).