Noonan-like syndrome with loose anagen hair: a new syndrome?
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".
Mazzanti
Laura
L
Department of Pediatrics, University of Bologna, Bologna, Italy. laura@almadns.unibo.it
Cacciari
Emanuele
E
Cicognani
Alessandro
A
Bergamaschi
Rosalba
R
Scarano
Emanuela
E
Forabosco
Antonino
A
D000293:Adolescent; D002648:Child; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics; D019066:Facies; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D009634:Noonan Syndrome / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D010641:Phenotype