Patient Review Referring Physician: Dr. Pedro Sanchez Gender: Male - - PowerPoint PPT Presentation
Patient Review Referring Physician: Dr. Pedro Sanchez Gender: Male Current Age: 2 years Ethnicity: Hispanic Patient Medical History Patient is a 2 year old male with cleft palate, plagiocephaly, club feet s/p casting and Achilles release,
Referring Physician: Dr. Pedro Sanchez Gender: Male Current Age: 2 years Ethnicity: Hispanic Patient Medical History Patient is a 2 year old male with cleft palate, plagiocephaly, club feet s/p casting and Achilles release, bilateral hyperopia, exotropia, aniridia and central corneal scarring and clouding. He also has developmental delay.
FaceBase 2- FB0101 Clinical Presentation
System Phenotype Eyes/Vision Bilateral aniridia, cataract, exotropia, hyperopia ENT/Mouth PE tubes, cleft palate Respiratory Hypoxemia require supplemental oxygen, obstructive sleep apnea Cardiovascular Negative Endocrine Negative Gastrointestinal Occasional diarrhea with new food Musculoskeletal Bilateral club feet s/p repair Dermatological Negative Neurological Developmental delay Hematologic/lymphatic Negative Renal Negative Allergic/Immunogenic Negative
FaceBase 2- FB0101 Clinical Presentation
Dysmorphic Features: cleft palate, plagiocephaly, bilateral hyperopia, exotropia, and aniridia, club feet. Previous Genetic Testing: microarray revealed a variant of unknown significance consisting of a 200.5kb duplication on chromosome Xp22.2. Previous Studies: N/A Environmental Triggers: Other:
FaceBase 2- FB0101 Clinical Presentation
FaceBase 2- FB0101 Clinical Presentation
(Please indicate which family members were sequenced)
FaceBase 2- FB0101 Clinical Presentation