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

SLIDE 1

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

SLIDE 2

Summary of Systems

System Phenotype Eyes/Vision Right side of face has absent globe and very shallow ocular orbit; small eyebrow and eyelashes with fused eyelid ENT/Mouth Multiple preauricular tags with microtia on the left; hypoplastic nasal ala; intact nasal septum; Respiratory Cardiovascular Double outlet right ventricle with multiple atrioseptal defects and ventriculoseptal defects Endocrine Gastrointestinal Musculoskeletal Left upper extremity has absent radius and absent thumb Dermatological Neurological Hematologic/lymphatic Renal Allergic/Immunogenic

FaceBase 2- FB0114 Clinical Presentation

SLIDE 3

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

SLIDE 4

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