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Indexed/Abstracted in: CAB, EMBASE, PubMed/MEDLINE, Science Citation Index Expanded (SciSearch), Scopus
Impact Factor 0,532
Online ISSN 1827-1715
Femiano P., Castaldo V., Iossa C., Pascarella F.
We report a rare genetic disorder, the Melnick-Needles syndrome (MNS) in 3 members of the same family, the mother and 2 daughters. This syndrome is a rare X-linked genetic disorder characterized by abnormal bone development, showing a particular facial appearance; moreover, these patients may also have a relatively small chest cavity with irregular ribbon-like ribs, a short clavicle and narrow shoulders. Stature is mildly reduced. The 3 members of this family shared the same common clinical and radiographic features designating MNS. The mother and the younger daughter were of short stature, while the other daughter was of normal stature within her parental target height. The evaluation of the GH/IGF-I axis evidenced a GH deficiency in 1 out of 3 members of the family, specifically in the younger daughter. The auxological evaluation also showed her stature was nearly below a 3 standard deviation score. This case report describes for the first time a family affected by MNS, in which one of the members shows a truly severe idiopathic, isolated GH deficiency, the likely cause of the severe short stature.