1.PSPS interim guidelines for pediatric surgery during the COVID-19 pandemic.
Amabelle A. Moreno ; Jose Modesto B. Abellera III ; Santiago C. Aquino ; Edrick H. Lim ; Richard B. Pascual ; Dures Fe E. Tagayuna ; Rodolfo G. Tuazon Jr. ; Ma. Celine Isobel A. Villegas
Philippine Journal of Surgical Specialties 2020;75(1):89-93
2.A novel CHD7 mutation in an adolescent presenting with growth and pubertal delay
Maria Christina ANTONIOU ; Thérèse BOUTHORS ; Cheng XU ; Franziska PHAN-HUG ; Eglantine ELOWE-GRUAU ; Sophie STOPPA-VAUCHER ; Almer VAN DER SLOOT ; James ACIERNO ; Daniele CASSATELLA ; Celine RICHARD ; Andrew DWYER ; Nelly PITTELOUD ; Michael HAUSCHILD
Annals of Pediatric Endocrinology & Metabolism 2019;24(1):49-54
Mutations in the CHD7 gene, encoding for the chromodomain helicase DNA-binding protein 7, are found in approximately 60% of individuals with CHARGE syndrome (coloboma, heart defects, choanal atresia, retarded growth and development, genital hypoplasia, ear abnormalities and/or hearing loss). Herein, we present a clinical case of a 14-year-old male presenting for evaluation of poor growth and pubertal delay highlighting the diagnostic challenges of CHARGE syndrome. The patient was born full term and underwent surgery at 5 days of life for bilateral choanal atresia. Developmental milestones were normally achieved. At age 14 his height and weight were
Adolescent
;
CHARGE Syndrome
;
Choanal Atresia
;
Diagnosis
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Ear
;
Follicle Stimulating Hormone
;
Follow-Up Studies
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Genetic Testing
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Gonadotropins
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Growth and Development
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Hearing
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Heart
;
Humans
;
Luteinizing Hormone
;
Male
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Olfaction Disorders
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Puberty, Delayed
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Testis
;
Testosterone
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