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Table 1 Summary of Melnick-Needles syndrome case reports within the past 15 years

From: A family of Melnick-Needles syndrome: a case report

Case Year Sex Age Described clinical features
1 [13]a 2017 F 27 Mandibular hypoplasia, retrognathia sleep apnea
2 [13]a 2017 F 21 Mandibular hypoplasia, retrognathia, hypodontia
3 [12] 2016 F 13 Cranial hyperostosis, short upper limbs, bowed long bones, metaphyseal thickening, genu valgum, shortened distal phalanges, hypoplastic pelvis and shoulders, rib tapering and irregularities, elongation of vertebrae, kyphoscoliosis, micrognathia, mandibular hypoplasia, abnormal dental development
4 [10] 2013 F 17 Prominent forehead, severely deformed chest with a significant mid-thoracic kyphosis, genu valgum, limb length inequality
5 [10] 2013 F 18 Prominent eyes, full cheeks, small chin, large prominent forehead, genu valgum, low weight and small height, significant lung disease (stent in right main bronchus)
6 [14] 2012 F 18 Unfavourable aesthetics, masticatory problems, sigmatism in her speech, sclerosis of the skull base, moderate kyphoscoliosis, curved clavicle, small rib cage, lowed long bones with metaphyseal flaring, coxa valga, hypoplastic pelvis
7 [9] 2009 F 6 Exophthalmos, full cheeks, high forehead, micrognathia, malaligned teeth, genu valgum, small chest wall with pectus carinatus, low weight and small height
8 [11] 2006 F 39 Dyspnea with congestion and wheezing, micrognathia, small and crowded oropharynx, kyphoscoliosis
  1. aCases 1 and 2 are sisters. In other cases, however, there is no familial report, so there is no information about inheritance