2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Never Two Late: A Dual Diagnosis of Noonan Syndrome and Hypophosphatasia in an Adolescent Patient with Unusual Presentation.

Never Two Late: A Dual Diagnosis of Noonan Syndrome and Hypophosphatasia in an Adolescent Patient with Unusual Presentation.

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Summary:<br /><br />This document discusses the case of a 17-year-old male patient who has been diagnosed with both Noonan syndrome and Hypophosphatasia (HPP). The patient was born prematurely and has a history of hypothyroidism. The document highlights various genetic variants and their implications for the patient's conditions. The patient exhibits a range of physical features associated with Noonan syndrome, including a prominent forehead, triangular face, low hanging columella, and short stature. He also has features indicative of HPP, such as short stature, small hands and feet, and osteopenia. The document suggests that the patient may be eligible for asfosfatase alfa therapy for HPP. Lab results show fluctuating alkaline phosphatase levels and bone density scan results indicate osteopenia. The report emphasizes the importance of broad genetic testing for patients with complex medical histories. The findings provide relief for the patient's parents, as they had previously felt guilty about their child's early health problems and poor growth. The document includes references to various research articles that support and contribute to the understanding of the patient's conditions.

Asset Subtitle

Presenting Author - Aixa M. Gonzalez Garcia, MD, FACMG; Co-Author - Emily Montoya, MS, LCGC;

Meta Tag

Bone/Joint Abnormalities

Brain/Nervous System

Cardiovascular System

Clinical History

Cognitive Disorders

Congenital Anomaly

Counseling

Dysmorphology

Etiology

Exome sequencing

Eye disorders

Gastrointestinal System

Genetic Testing

Genitourinary malformations

Intellectual disability

Musculoskeletal system

Phenotype

Psychosocial Issues

Sequencing

Therapy

Co-Author Emily Montoya, MS, LCGC

Presenting Author Aixa M. Gonzalez Garcia, MD, FACMG

Keywords

Noonan syndrome

Hypophosphatasia

genetic variants

hypothyroidism

physical features

asfosfatase alfa therapy

alkaline phosphatase levels

bone density scan

broad genetic testing

research articles