We present three children with short stature, the same facial phenotype, macrocephaly, enlarged cerebral spinal fluid spaces, short neck with redundant skin, severe GH deficiency, mild psychomotor delay with attention deficit/hyperactivity disorder (ADHD), mild dilatation of the pulmonary root in two of them, and a unique combination of ectodermal abnormalities. Their appearance, not completely typical of Noonan syndrome, the behavioral phenotype, GH deficiency, darkly pigmented and hairless skin, and the unusual aspect of the hair, defined as loose anagen hair syndrome did not fit any known condition. We postulate that these children may represent a distinct, previously unreported syndrome that we would name "Noonan-like syndrome with loose anagen hair".
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1002/ajmg.a.10923 | DOI Listing |
Actas Dermosifiliogr
January 2025
Pathology Department. Hospital Universitario Son Espases, Majorca, Spain.
Indian Dermatol Online J
May 2024
Department of Pediatric Dermatology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India.
Actas Dermosifiliogr
November 2024
Pathology Department, Hospital Universitario Son Espases, Majorca, Spain.
Transl Pediatr
July 2024
Department of Endocrinology, Children's Hospital of Capital Institute of Pediatrics, Beijing, China.
Hum Mol Genet
September 2024
Department of Molecular and Cellular Biochemistry, University of Kentucky, 741 S Limestone St, Lexington, KY 40536, United States.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!