Premium
Noonan‐like syndrome with loose anagen hair: A new syndrome?
Author(s) -
Mazzanti Laura,
Cacciari Emanuele,
Cicognani Alessandro,
Bergamaschi Rosalba,
Scarano Emanuela,
Forabosco Antonino
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.10923
Subject(s) - noonan syndrome , macrocephaly , short stature , medicine , phenotype , body hair , pinna , hypertrichosis , endocrinology , dermatology , anatomy , pediatrics , biology , genetics , gene
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”. © 2003 Wiley‐Liss, Inc.