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

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patient review

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

Jun 07, 2023 105 likes •179 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

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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

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Summary of Systems

System Phenotype Eyes/Vision normal ENT/Mouth Normal hearing Respiratory Cardiovascular Endocrine Gastrointestinal Musculoskeletal Mild coxa valga, hand findings as described Dermatological atrophoderma vermiculata Neurological ADD Hematologic/lymphatic Renal Allergic/Immunogenic

FaceBase 2- FB0021 Clinical Presentation

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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

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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

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Family History

Older brother with ADD
Mother with extra set of each maxillary and mandibular

teeth

FaceBase 2- FB0021 Clinical Presentation

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FaceBase 2- FB0021 Clinical Presentation

Pedigree