A very rare syndrome of generalized bone dysplasia with stunted stature, relatively large cranium and a typical facial appearance. Craniofacial features include micrognathia of the lower jaw, malocclusion, exophthalmos, hypertelorism, full cheeks, high and narrow forehead, and large ears. Skeletal abnormalities include mild bowing of the upper arms and shanks with cubitus valgus and genu valgum, and slight shortening of the distal phalanges, especially the thumbs. The patients usually attract attention because of an abnormal gait and bowed limbs. Recurrent respiratory and ear infections. Present from birth. Both sexes affected. Male-to-female 1:7. Inheritance is autosomal dominant, but may be X-linked, with lethality in males and survival in females.
- J. Melnick, C. F. Needles:
An undiagnosed bone dysplasia. A 2 family study of 4 generations and 3 generations.
American Journal of Roentgenology, 1966, 97: 39-48.
- Jürgen W. Spranger, Leonard O. Langer, Jr., Hans-Rudolf Wiedemann:
Bone dysplasias. An Atlas of Constitutional Disorders of Skeletal Development.
Stuttgart and Philadelphia: G. Fischer and W. B. saunders, 1974.
- B. Leiber, G. Olbrich, N. Moelter et al:
Monatsschrift für Kinderheilkunde, Berlin, 1975, 123: 178.
- J. P. Fryns, R. Maertens, H. van den Bergh:
Osteodysplastia – a rare skeletal dysplasia.
Acta paediatrica Belgica, Bruxelles, 1979, 32: 65.
- F. Majewski et al:
Serpentine fibula – polycystic kidney syndrome and Melnick-Needles syndrome are different disorders.
European Journal of Pediatrics, Berlin, 1993, 152: 916-921.