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

Patient Review Referring Physician: Dr. Pedro Sanchez Gender: Male Current Age: 11 Ethnicity: Hispanic Patient Medical History Patient is a 11 year old male with multiple congenital anomalies including Pierre Robin sequence, sagittal craniosynotosis, intellectual disability global developmental delay, autism, optic nerve hypoplasia. He has an inoperable brain glioma defined as diffuse infiltrate of the right cerebellum, not present at birth. He was fed by mouth for the first 6 months but eventually required G-tube. He initially failed newborn hearing test and had bilateral myringotomy tubes placed and was found to have normal hearing at age 3. He had persistent low tone in the 1 st year of life but was able to sit by 9 mos. He cannot walk independently and uses a wheel chair to get around. He was found to have autism at 23mos, can understand almost everything but does not communicate. He developed progressive scoliosis and required spinal fusion in 2012. He has chronic lung infections. He has a PDA and consistently low level of cortisol. He has progressive craniofacial change with shallow eye sockets and midface hypoplasia. FaceBase 2- FB0055 Clinical Presentation

Summary of Systems System Phenotype Exophthalmos, bilateral prominent eye lids, shallow orbits. Eyes/Vision Non-dysmorphic ears, prominent philtrum, anteverted nose, ENT/Mouth depressed nose bridge Trachea midline, tracheostomy in place, non-labored respiration. Respiratory Regular rate and rhythm. No murmur. Cardiovascular Borderline cortisol levels. Endocrine Normal bowel sound. G-tube in place. Gastrointestinal Abnormal range of motion. Thin and decreased muscle bulk and low Musculoskeletal tone, scoliosis, cerebral palsy. Diffuse hirsutism on face, arms, legs, back. Wrinkled palms and Dermatological prominent fetal tip pads. Global developmental delay but appears alert, Autism. Neurological Denies bleeding tendency. Denies pallor. Hematologic/lymphatic Denies dysuria. Denies urinary frequency. Renal Allergic to vancomycin, Reglan, Risperdal. Allergic/Immunogenic FaceBase 2- FB0055 Clinical Presentation

Other information available Dysmorphic Features: sagittal craniosynotosis, dolicocephaly, micrognathia, proptosis, midface hypoplasia, diffuse hirsutism, soft wrinkled hands, thin extremities, low muscle tone. Previous Genetic Testing: N/A Previous Studies: N/A Environmental Triggers: N/A Other: In 1 st trimester, mother’s pregnancy was significant for vaginal bleeding concerns early, developed gallstone and lost weight. She took no medication but prenatal vitamins. FaceBase 2- FB0055 Clinical Presentation

Family History 35 yo mother G3P2 (SAB 14 weeks), 1 maternal ½ sister AAW. • 55 yo father, 2 paternal ½ siblings (35 and 31, pregnant). Father • has a distant cousin with special needs and one with Down syndrome. Father’s grandfather died in 70’s of stomach cancer. Both parents are healthy without issues. • No history of learning issues, early death or birth defects. Non- • consanguineous. FaceBase 2- FB0055 Clinical Presentation

Pedigree (Please indicate which family members were sequenced) FaceBase 2- FB0055 Clinical Presentation