Noonan-like syndrome with loose anagen hair: a new syndrome?

doi:10.1002/ajmg.a.10923

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Article

Noonan-like syndrome with loose anagen hair: a new syndrome?

American journal of medical genetics. Part A - 30 Apr 2003

Mazzanti Laura, Cacciari Emanuele, Cicognani Alessandro, Bergamaschi Rosalba, Scarano Emanuela, Forabosco Antonino

Abstract excerpt

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...

Topics

Adolescent
Child
Developmental Disabilities
Facies
Female
Humans
Karyotyping
Male
Noonan Syndrome
Phenotype

Source

Open in PubMed

Identifiers

PMID: 12673660
DOI: 10.1002/ajmg.a.10923

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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