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- Title
A rare case of Melnick Needles syndrome. Case report and brief review of literature.
- Authors
Mangaraj, Swayamsidha; Choudhury, Arun Kumar; Mishra, Ipsita; Patro, Debasish; Baliarsinha, Anoj Kumar
- Abstract
Melnick Needles syndrome is a rare genetic disorder characterised by multiple skeletal deformities. Short stature with bony deformities is the predominant clinical presentation in childhood. It is one of the few genetic disorders in which females have complete clinical expression and perinatal lethality occurs in affected males. Radiological findings and along with distinctive facial appearance are quite helpful for establishing clinical diagnosis. Apart from skeletal problems, involvement of other organ systems have also been reported. However the disease may evade clinical detection due to lack of awareness among physicians. We report this case for rarity of this disorder and describe the classical clinical and radiological findings.
- Subjects
OSTEOCHONDRODYSPLASIAS; BONE diseases in children; OSTEORADIOGRAPHY; GENETIC disorders in children; CLINICAL trials; DIAGNOSIS
- Publication
Clinical Cases in Mineral & Bone Metabolism, 2018, Vol 15, Issue 1, p100
- ISSN
1724-8914
- Publication type
Case Study