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

Aug 14, 2022 •312 likes •376 views

Patient Review Referring Physician: Dr. Joan Stoler Gender: x Male Female Current Age: 18 months Ethnicity: Italian, Irish and French Canadian Summary of Case: midline cleft lip and cleft palate, lobar holoprosencephaly Patient Medical

Patient Review Referring Physician: Dr. Joan Stoler Gender: x Male ☐ Female Current Age: 18 months Ethnicity: Italian, Irish and French Canadian Summary of Case: midline cleft lip and cleft palate, lobar holoprosencephaly Patient Medical History: 1. Midline cleft lip and cleft palate 2. Lobar holoprosencephaly 3. Hypoplastic nose and midface 4. Unilateral renal agenesis with Grade III-IV reflux of the right kidney FaceBase 2- FB0023 Clinical Presentation
Summary of Systems System Phenotype Eyes/Vision Cleft lip/palate s/p repair ENT/Mouth Respiratory Possible ASD Cardiovascular Endocrine GERD Gastrointestinal Pes planus Musculoskeletal Dermatological Central hypotonia, mild appendicular hypertonia Neurological Hematologic/lymphatic Unilateral renal agenesis, vesicoureteral reflux Renal Allergic/Immunogenic FaceBase 2- FB0023 Clinical Presentation
Other information available Dysmorphic Features: significant midface hypoplasia, nasal hypoplasia, hypertelorism Previous Genetic Testing: maternal VUS in GLI2 (p.Arg754Gln) Paternal 15.4 kb loss at 10q23.31 (max coordinates 89693518-89708908) Other HPE genes negative (DISP1, FGF8, FOXH1, NODAL, PTCH1, SHH, SIX3, TDGF1, TGIF1, ZIC2) Previous Studies: normal 7-dehydrocholesterol Environmental Triggers: N/A Other: N/A FaceBase 2- FB0023 Clinical Presentation
Family History • Maternal half sister with cleft palate • Mother has a high palate Availability of Family Members for Sequencing: proband and parents FaceBase 2- FB0023 Clinical Presentation
Parental ancestry: Italian, Irish and French Canadian Midline CL/CP, lobar HPE, single kidney FaceBase 2- FB0023 Clinical Presentation

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