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

Jun 07, 2023 •105 likes •178 views

Patient Review Referring Physician: Dr. Joan Stoler Gender: Male x Female Current Age: 14 yrs Ethnicity: Irish, English, German, French Canadian Summary of Case: dysmorphic facial features, clinodactyly, camptodactyly of left index finger

Patient Review Referring Physician: Dr. Joan Stoler Gender: ☐ Male x Female Current Age: 14 yrs Ethnicity: Irish, English, German, French Canadian Summary of Case: dysmorphic facial features, clinodactyly, camptodactyly of left index finger Patient Medical History: Surgery for camptodactyly Delayed closure of the fontanel Delayed dentition FaceBase 2- FB0021 Clinical Presentation
Summary of Systems System Phenotype normal Eyes/Vision Normal hearing ENT/Mouth Respiratory Cardiovascular Endocrine Gastrointestinal Mild coxa valga, hand findings as described Musculoskeletal atrophoderma vermiculata Dermatological ADD Neurological Hematologic/lymphatic Renal Allergic/Immunogenic FaceBase 2- FB0021 Clinical Presentation
Other information available Dysmorphic Features: Small palpebral fissures, small pits of skin on face, small simple cupped low-set ears, flat midface, little earlobe, small mouth, pointed chin, mild pectus excavatum Previous Genetic Testing: normal karyotype, STS normal, RUNX2, Cx43 (GJA1), CHD7 normal, chromosome microarray which showed a 1.6 megabase duplication at Xp22.31 which was maternally inherited, Noonan spectrum chip normal FaceBase 2- FB0021 Clinical Presentation
Other information available Previous Studies: renal ultrasound: mild bilateral pelviectasis, thick bladder wall Skeletal survey: hypoplastic maxilla with nonvisualization of maxillary sinuses and nonvisualization of the sphenoid sinus. There is mild microcephaly. On this single lateral view of the skull, the anterior fontanelle seems to be fused. Lateral views of the spine demonstrate no appreciable abnormalities. Evaluation of the upper extremities reveals very mild clinodactyly ofthe left fifth digit, and ulnar deviation at the PIP joint of left index finger. Clavicles are present and appear normal. The ribs are normal in appearance. There is likely mild bilateral coxa valga and/or excessive femoral neck anteversion present. FaceBase 2- FB0021 Clinical Presentation
Family History • Older brother with ADD • Mother with extra set of each maxillary and mandibular teeth FaceBase 2- FB0021 Clinical Presentation
Pedigree FaceBase 2- FB0021 Clinical Presentation

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