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

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 ENT/Mouth Cleft lip/palate s/p repair Respiratory Cardiovascular Possible ASD Endocrine Gastrointestinal GERD Musculoskeletal Pes planus Dermatological Neurological Central hypotonia, mild appendicular hypertonia Hematologic/lymphatic Renal Unilateral renal agenesis, vesicoureteral reflux 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

Midline CL/CP, lobar HPE, single kidney

Parental ancestry: Italian, Irish and French Canadian

FaceBase 2- FB0023 Clinical Presentation