Foramen magnum stenosis in a 5-month-old boy with achondroplasia

Malhotra et al discuss the case study of a 5-month-old boy with short stature and macrocephaly. His delivery had been normal, although his parents had noticed snoring from the age of 4 months. He had shortened proximal limb lengths (humerus and femur), bifrontal bossing and a large, flat fontanelle...

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Bibliographic Details
Published in:	Canadian Medical Association journal (CMAJ) Vol. 194; no. 34; p. E1172
Main Authors:	Malhotra, Armaan K, Parker, Whitney, Dirks, Peter B
Format:	Journal Article
Language:	English
Published:	Canada CMA Impact Inc 06-09-2022 CMA Impact, Inc
Subjects:	Achondroplasia Achondroplasia - complications Achondroplasia - diagnostic imaging Babies Bone Diseases Case reports Case studies Constriction, Pathologic - diagnostic imaging Foramen Magnum - diagnostic imaging Genetic disorders Growth disorders Humans Infant Infants Male Mutation Nervous system diseases Pediatric research Pediatrics Practice Sleep apnea Stenosis Canada
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Summary:	Malhotra et al discuss the case study of a 5-month-old boy with short stature and macrocephaly. His delivery had been normal, although his parents had noticed snoring from the age of 4 months. He had shortened proximal limb lengths (humerus and femur), bifrontal bossing and a large, flat fontanelle suspicious for achondroplasia. Neurologic examination was normal. The patient had moderate central sleep apnea diagnosed on polysomnography. Genetic testing confirmed fibroblast growth factor 3 (FGFR3) gene mutation and we diagnosed achondroplasia.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0820-3946 1488-2329
DOI:	10.1503/cmaj.220007