Presentation
Jaw & Teeth
- Microstomia
We report on a 1-month-old infant with blepharophimosis, telecanthus, ear anomalies, and microstomia. He also had a long philtrum and a narrow, high-arched palate. [ncbi.nlm.nih.gov]
Ears
- Large Ears
We report on 2 unrelated Indian girls with blepharophimosis, arachnodactyly, digital contractures which improved spontaneously, elbow deformity, beaked nose, everted lips, and large ears, findings similar to those in 2 cases reported previously by Van [ncbi.nlm.nih.gov]
Musculoskeletal
- Joint Limitation
Main findings in her were marked developmental delay, blepharophimosis, ptosis, cleft palate, external auditory canal stenosis, small and malformed teeth, hypothyroidism, hearing impairment, and joint limitations. [ncbi.nlm.nih.gov]
Face, Head & Neck
- High Forehead
forehead, ptosis, blepharophimosis, large low-set ears, bulbous nasal tip, pear-shaped nose Nasal speech Cardiac septal defects, seizures, cryptorchidism Friendly disposition 610443 Management Evaluations Following Initial Diagnosis To establish the [ncbi.nlm.nih.gov]
- Narrow Forehead
Additional dysmorphic features include microcephaly, high, narrow forehead, short stubby fingers, and adduction of the right first toe. Cytogenetic analysis showed an unbalanced karyotype consisting of 46,XX,add(7)(q ) that was de novo in origin. [ncbi.nlm.nih.gov]
- Narrow Nose
This is the fifth report of VDEGS, which is characterized by blepharophimosis, narrow nose with hypoplastic alae nasi, hypoplastic maxilla, everted lower lip, slender and elongated hands and feet, arachnodactyly, self-limiting joint contractures, and [ncbi.nlm.nih.gov]
- Beak Nose
We report on 2 unrelated Indian girls with blepharophimosis, arachnodactyly, digital contractures which improved spontaneously, elbow deformity, beaked nose, everted lips, and large ears, findings similar to those in 2 cases reported previously by Van [ncbi.nlm.nih.gov]
- Beaked Nose
We report on 2 unrelated Indian girls with blepharophimosis, arachnodactyly, digital contractures which improved spontaneously, elbow deformity, beaked nose, everted lips, and large ears, findings similar to those in 2 cases reported previously by Van [ncbi.nlm.nih.gov]
Neurologic
- Nasal Speech
speech Cardiac septal defects, seizures, cryptorchidism Friendly disposition 610443 Management Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with blepharophimosis syndrome (BPES), the [ncbi.nlm.nih.gov]