Patient Review Referring Physician: Dr. Pedro Sanchez Gender: Male - PowerPoint PPT Presentation

Oct 27, 2022 •231 likes •292 views

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,

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, bilateral hyperopia, exotropia, aniridia and central corneal scarring and clouding. He also has developmental delay. FaceBase 2- FB0101 Clinical Presentation
Summary of Systems System Phenotype Bilateral aniridia, cataract, exotropia, hyperopia Eyes/Vision PE tubes, cleft palate ENT/Mouth Hypoxemia require supplemental oxygen, obstructive sleep apnea Respiratory Negative Cardiovascular Negative Endocrine Occasional diarrhea with new food Gastrointestinal Bilateral club feet s/p repair Musculoskeletal Negative Dermatological Developmental delay Neurological Negative Hematologic/lymphatic Negative Renal Negative Allergic/Immunogenic FaceBase 2- FB0101 Clinical Presentation
Other information available 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
Family History • 38yo mother G7P3 2SAB (4 months, 3 months) 2TAB. All with the same father. • 32yo father with no medical problem. 1 brother(½) and 1 full sister. • FaceBase 2- FB0101 Clinical Presentation
Pedigree (Please indicate which family members were sequenced) FaceBase 2- FB0101 Clinical Presentation

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