Melnick-Needles Syndrome Associated with Growth Hormone Deficiency: A Case Report

Abstract

Melnick−Needles syndrome is an X−linked dominant bone dysplasia characterized by a typical facies (exophthalmos, full cheeks, micrognathia, and malalignment of teeth), flaring of the metaphyses of long bones, s−like curvature of the lower extremities, irregular constriction in the ribs, and sclerosis of base of the skull. The phenotype of affected individuals varies, even within families. About fifty cases of Melnick−Needles syndrome have been reported to date. Short stature is not a well−known component of the disorder. There is only one reported case of Melnick−Needles syndrome associated with growth hormone deficiency. A six−year−old girl who presented to our clinic with short stature was diagnosed as Melnick−Needles syndrome based upon characteristic clinical and radiological findings. Two different stimulation tests demonstrated growth hormone deficiency. Presenting this second case of Melnick−Needles syndrome associated with growth hormone deficiency, we suggest that this association may be coincidental, but that it may also be a consequence of craniofacial abnormalities or an independent component of the disorder.Conflict of interest:None declared.

Melnick Needle Syndrome: A Rare Case Report and Review.

“…Other abnormalities may also be noted. Congenital heart defects and high blood pressure in the lungs have also been reported in those with MNS, which was ruled out in our patient 4,7 .…”

“…Individuals with MNS have a particular facial appearance with prominent, widely-spaced eyes, full cheeks, small facial bones, and an unusually small lower jaw (micrognathia). The skull may be slow to develop and the way in which affected individuals bring their teeth together (bite) may be abnormal.The upper arms and the last bones in the fingers (distal phalanges) may be shorter than normal 2,3,4 . One of the short bones of the arm (radius) and of the leg (fibula) may be bowed.…”

Maxillofacial Changes in Melnick-Needles Syndrome

“…Bilateral hypoplasia of the cochlea, leading to loss of hearing, growth hormone deficiency, and hyperelasticity of the skin and joints are anomalies associated with the disease that are reported in the literature review but were not found in the patient [ 10 , 24 , 25 ].…”

“…The female phenotype for Melnick-Needles Syndrome is variable [ 8 , 10 ]. Normally, the women affected are short and have delayed motor development, osteoarthritis, hoarse voices, and urethral stenosis, leading to hydronephrosis, in addition to the main abnormalities [ 8 ].…”

“…The other syndromes are frontometaphyseal dysplasia, otopalatodigital syndrome type 1 (OPD1), and otopalatodigital syndrome type 2 (OPD2). Due to different chromosome loci, the phenotypes of these conditions differ from each other and may or may not appear in a severe form [ 6 , 9 , 10 ].…”