Patient Review Referring Physician: Dr. Joan Stoler Gender: X Male - PowerPoint PPT Presentation

Sep 02, 2023 •149 likes •196 views

Patient Review Referring Physician: Dr. Joan Stoler Gender: X Male Female Current Age: 5 months Ethnicity: Arab Summary of Case: hemifacial left microsomia, unilateral anophthalmia and microtia, absent left radius, double outlet right

Patient Review Referring Physician: Dr. Joan Stoler Gender: X Male ☐ Female Current Age: 5 months Ethnicity: Arab Summary of Case: hemifacial left microsomia, unilateral anophthalmia and microtia, absent left radius, double outlet right ventricle Patient Medical History - Left hemifacial microsomia with preauricular tags and absent left radius - Double outlet right ventricle with multiple atrioseptal defects and ventriculoseptal defects - Had surgery - Normal growth and development - Normal abdominal ultrasound FaceBase 2- FB0114 Clinical Presentation
Summary of Systems System Phenotype Right side of face has absent globe and very shallow ocular orbit; Eyes/Vision small eyebrow and eyelashes with fused eyelid Multiple preauricular tags with microtia on the left; hypoplastic nasal ENT/Mouth ala; intact nasal septum; Respiratory Double outlet right ventricle with multiple atrioseptal defects and Cardiovascular ventriculoseptal defects Endocrine Gastrointestinal Left upper extremity has absent radius and absent thumb Musculoskeletal Dermatological Neurological Hematologic/lymphatic Renal Allergic/Immunogenic FaceBase 2- FB0114 Clinical Presentation
Other information available Dysmorphic Features: Previous Genetic Testing: 46XY karyotype, whole genome sequencing from Centrogene Previous Studies: Environmental Triggers: Other: Postnatal MRI showed structurally normal brain with intact corpus callosum and absent left eye FaceBase 2- FB0114 Clinical Presentation
Family History • Healthy older sister • Mother has 9 brothers, one has a son with CP and 15 sisters, one had twins with congenital heart disease (mom not sure exactly what) • Maternal grandmother has hypertension, grandfather died from laryngeal cancer • Father has hypertension, 3 healthy brothers and 3 healthy sisters • Paternal grandmother died from pulmonary edema, paternal grandfather died from hypertension and old age. FaceBase 2- FB0114 Clinical Presentation

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